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Gene: Dhx40 MGI:1914737

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Gene Summary

Name:
DEAH-box helicase 40
Synonyms:
ARG147,  DDX40,  2410016C14Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina vasculature morphology Dhx40tm1b(KOMP)Wtsi HOM Early adult 1.70×10-05
decreased hemoglobin content Dhx40tm1b(KOMP)Wtsi HOM Early adult 1.67×10-14
increased spleen weight Dhx40tm1b(KOMP)Wtsi HOM Early adult 7.04×10-05
increased bone mineral content Dhx40tm1(NCOM)Cmhd HOM Early adult 1.77×10-08
decreased bone mineral density Dhx40tm1(NCOM)Cmhd HOM Early adult 1.20×10-06
abnormal retina blood vessel morphology Dhx40tm1b(KOMP)Wtsi HOM   Early adult 9.65×10-06
decreased hematocrit Dhx40tm1b(KOMP)Wtsi HOM Early adult 6.17×10-10
abnormal behavior Dhx40tm1(NCOM)Cmhd HOM Early adult 1.71×10-06
abnormal bone mineralization Dhx40tm1(NCOM)Cmhd HOM Early adult 3.60×10-06
decreased locomotor activity Dhx40tm1(NCOM)Cmhd HOM Early adult 9.94×10-05
abnormal cornea morphology Dhx40tm1b(KOMP)Wtsi HOM Early adult 4.28×10-05
abnormal bone structure Dhx40tm1(NCOM)Cmhd HOM Early adult 8.73×10-10
decreased total retina thickness Dhx40tm1b(KOMP)Wtsi HOM Early adult 9.39×10-07
increased lean body mass Dhx40tm1b(KOMP)Wtsi HOM Early adult 1.82×10-05
decreased erythrocyte cell number Dhx40tm1b(KOMP)Wtsi HOM Early adult 4.09×10-09
abnormal eye anterior chamber depth Dhx40tm1b(KOMP)Wtsi HOM Early adult 4.61×10-07

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Aorta  Wholemount images heterozygote 100% (2 of 2)
Bone  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cartilage tissue  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Heart  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Kidney  Wholemount images heterozygote 100% (2 of 2)
Large intestine  Wholemount images heterozygote Ambiguous
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Ovary  Wholemount images heterozygote 50% (1 of 2)
Oviduct  Wholemount images heterozygote 50% (1 of 2)
Pancreas  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Pituitary gland  Wholemount images heterozygote 50% (1 of 2)
Skeletal muscle  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Uterus  Wholemount images heterozygote 50% (1 of 2)
Vascular system  Wholemount images heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cecum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
Vas deferens N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
uterus 0.0%
vas deferens Unavailable
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

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Eye Morphology

VIP of right fundus

16 Images

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Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of right eye

15 Images

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X-ray

XRay Images Skull Lateral Orientation

8 Images

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Eye Morphology

VIP of left eye

16 Images

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X-ray

XRay Images Forepaw

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

8 Images

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Histopathology

Images

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Adult LacZ

LacZ Images Wholemount

13 Images

View images

Human diseases caused by Dhx40 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Dhx40 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemic rickets, Increased bone mineral density OMIM:241520
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Vitreous hemorrhage, Retinal neovascularization, Chorior... ORPHA:891
Osteoporosis
Osteoporosis OMIM:166710
Macular Dystrophy, Corneal
Recurrent corneal erosions, Macular dystrophy, Corneal dystrophy, Punctate opacification of the c... OMIM:217800
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Shallow anterior chamber, Peripheral vitr... OMIM:305390
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Subcapsula... OMIM:133780
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Hypophosphatasia, Adult
Rickets, Pathologic fracture, Osteomalacia, Recurrent fractures, Increased susceptibility to frac... OMIM:146300
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Vitreoretinochoroidopathy
Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retinal arteriolar oc... OMIM:193220
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Hypophosphatemic Rickets, Autosomal Dominant
Rickets, Osteomalacia, Hypophosphatemic rickets OMIM:193100
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Hip Dysplasia, Beukes Type
Abnormality of bone mineral density, Abnormal bone ossification, Abnormal ossification involving ... ORPHA:2114
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Gnathodiaphyseal Dysplasia
Osteopenia, Diaphyseal cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures OMIM:166260
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... OMIM:615285
Eales Disease
Retinal thinning, Peripheral retinal neovascularization, Cystoid macular edema, Vitreous floaters... ORPHA:40923
Renal Tubular Acidosis, Proximal
Rickets, Osteomalacia OMIM:179830
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Tyrosinemia Type 1
Rickets of the lower limbs ORPHA:882
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly OMIM:615085
Hypercholanemia, Familial 1
Rickets OMIM:607748
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Erythrocytosis, Familial, 5
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617907
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple... OMIM:618963
Erythrocytosis, Familial, 4
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:611783
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... OMIM:617319
Erythrocytosis, Familial, 7
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617981
Erythrocytosis, Familial, 6
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit OMIM:617980
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Hypocalcemic Vitamin D-Resistant Rickets
Bone cyst, Abnormal bone structure, Gait disturbance, Coarse metaphyseal trabecularization, Osteo... ORPHA:93160
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Waddling gait, Osteo... ORPHA:157215
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Lethargy OMIM:611590
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Autosomal Dominant Keratitis
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... ORPHA:2334
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Difficulty walking, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent f... OMIM:600081
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Retinopathy, Thrombocytopenia,... ORPHA:158029
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia OMIM:614979
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Chorioretinitis, Retinal hemorrhage, Thrombocytope... ORPHA:294
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... ORPHA:3202
Trichothiodystrophy 6, Nonphotosensitive
Microcornea, Small for gestational age, Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Recurrent fractures, Osteomalacia OMIM:613388
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Rickets, Ataxia, Osteoporosis OMIM:560000
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... OMIM:300554
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Difficulty walking, Delayed epiphyseal ossification, Sparse bo... OMIM:241530
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... OMIM:300946
Erythrocytosis, Familial, 2
Failure to thrive, Increased circulating hemoglobin concentration, Increased red blood cell mass,... OMIM:263400
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia ORPHA:89937
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Norrie Disease
Optic atrophy, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacity, Hypoplasia of... OMIM:310600
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari... OMIM:618849
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Bone Marrow Failure Syndrome 3
Aplastic anemia, Astigmatism, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dysplasi... OMIM:617052
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets OMIM:211600
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Congenital Primary Aphakia
Developmental glaucoma, Aniridia, Retinal dysplasia, Aplasia/Hypoplasia affecting the anterior se... ORPHA:83461
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration... OMIM:194380
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Retinopathy, Target cel... OMIM:603903
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Difficulty walking, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent f... OMIM:264700
Vitamin D-Dependent Rickets, Type 2A
Rickets, Difficulty walking, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent f... OMIM:277440
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Hepatomegaly, Choleli... OMIM:266200
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Sickle Cell Anemia
Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... ORPHA:232
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Hypophosphatemic rickets, Waddling gait, Osteoarthritis, Osteomalacia OMIM:307800
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Increased size of nasopharyngeal adenoids, Overweight, Astigmatism, Persistence of hemoglobin F OMIM:619769
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Dermatosparaxis Ehlers-Danlos Syndrome
Rickets, Osteopenia, Osteoporosis, Joint stiffness, Osteomalacia, Joint hypermobility ORPHA:1901
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit ORPHA:284227
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Retinal neovascularization, Retinal cotton wool spot, Abn... ORPHA:247691
Fanconi Renotubular Syndrome 1
Rickets, Osteomalacia OMIM:134600
Dominant Beta-Thalassemia
Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... ORPHA:231226
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... OMIM:300009
Abcd Syndrome
Large for gestational age, Hypopigmentation of the fundus, Polycythemia OMIM:600501
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hepatomegaly, Decreased ... ORPHA:231214
Infantile Systemic Hyalinosis
Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Osteomalacia, Recurrent fract... ORPHA:2176
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Ziegler-Huang Syndrome
Bone marrow hypocellularity, Persistence of hemoglobin F, Macrocytic anemia, Neutropenia OMIM:620501
Fibrous Dysplasia Of Bone
Rickets, Difficulty walking, Pathologic fracture, Abnormal bone structure, Cortical irregularity,... ORPHA:249
Sitosterolemia 1
Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reti... OMIM:210250
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Rickets, Recurrent fractures OMIM:268315
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Difficulty walking, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalaci... ORPHA:289157
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Hypophosphatemic Rickets And Hyperparathyroidism
Rickets, Hypophosphatemic rickets OMIM:612089
Cystinosis
Rickets, Gait disturbance ORPHA:213
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Phacoanaphylactic Uveitis
Abnormal corneal endothelium morphology, Abnormal vitreous humor morphology, Macular edema, Hypop... ORPHA:209959
Persistent Hyperplastic Primary Vitreous
Hyaloid vascular remnant and retrolental mass, Microcornea, Corneal opacity, Persistent pupillary... ORPHA:91495
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microcornea, Corneal opacity, Persistent pupillary membrane, Retinal nonattachment, Retinal fold,... OMIM:221900
Bile Acid Synthesis Defect, Congenital, 1
Rickets OMIM:607765
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, HbH hemoglobin, Microcytic anemia ORPHA:98791
Shwachman-Diamond Syndrome 1
Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Failure ... OMIM:260400
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Diamond-Blackfan Anemia
Developmental glaucoma, Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, N... ORPHA:124
Dent Disease
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... ORPHA:1652
Congenital Bile Acid Synthesis Defect Type 2
Rickets ORPHA:79303
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteomalacia, Osteoporosis ORPHA:309031
Celiac Disease, Susceptibility To, 1
Rickets, Ataxia, Osteoporosis OMIM:212750
Fanconi-Bickel Syndrome
Rickets, Osteopenia ORPHA:2088
Mccune-Albright Syndrome
Aneurysmal bone cyst, Polyostotic fibrous dysplasia, Monostotic fibrous dysplasia, Osteomalacia, ... ORPHA:562
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Neu-Laxova Syndrome
Rickets, Osteopenia, Osteoporosis, Flexion contracture, Osteomalacia, Arthrogryposis multiplex co... ORPHA:2671
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Thymoma
Aplastic anemia, Pure red cell aplasia, Weight loss, Imbalanced hemoglobin synthesis, Leukemia ORPHA:99867
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Fanconi-Bickel Syndrome
Rickets, Osteomalacia OMIM:227810
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Anemia, Abnormal hemoglobin ORPHA:847
Gaisböck Syndrome
Increased red blood cell count, Elevated plasma cell count, Increased mean corpuscular hemoglobin... ORPHA:90041
Distal Renal Tubular Acidosis
Rickets, Osteomalacia, Reduced bone mineral density, Increased susceptibility to fractures ORPHA:18
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia, Small for gestational age ORPHA:330015
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Occipital Horn Syndrome
Rickets, Osteopenia, Synostosis of joints, Osteoporosis, Osteomalacia, Joint hypermobility, Osteo... ORPHA:198
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Joint hypermobility, Thin bony cortex OMIM:613658
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:301040
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Primary Fanconi Renotubular Syndrome
Osteomalacia, Hypophosphatemic rickets, Increased susceptibility to fractures ORPHA:3337
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Rickets, Osteopenia, Abnormally ossified vertebrae, Osteoporosis, Osteomalacia ORPHA:2636
Lowe Oculocerebrorenal Syndrome
Rickets, Pathologic fracture, Osteomalacia, Camptodactyly of finger, Joint hypermobility, Joint c... OMIM:309000
Wilson Disease
Osteomalacia, Joint hypermobility, Osteoarthritis, Osteoporosis OMIM:277900
Oculocerebrorenal Syndrome Of Lowe
Arthritis, Joint stiffness, Osteomalacia, Joint hypermobility, Recurrent fractures ORPHA:534
Alkaptonuria
Black pigment gallstones, Corneal astigmatism, Hemolytic anemia, Methemoglobinemia ORPHA:56
Cystinosis, Nephropathic
Rickets, Hypophosphatemic rickets OMIM:219800
Immunodeficiency 82 With Systemic Inflammation
Osteomalacia, Arthritis, Osteomyelitis OMIM:619381
Hypomagnesemia 3, Renal
Rickets OMIM:248250
Generalized Arterial Calcification Of Infancy
Osteomalacia, Abnormal calcification of the carpal bones, Fused cervical vertebrae, Hypophosphate... ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype Allele Zygosity Sex Life Stage
Eye - MPATH pathological process term hypoplasia Dhx40tm1b(KOMP)Wtsi HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dhx40.

No publications found that use IMPC mice or data for Dhx40.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Dhx40tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dhx40tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Dhx40tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dhx40tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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