Gene Summary

Name:
WD repeat domain 47
Synonyms:
1810073M12Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
increased circulating alkaline phosphatase level Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 5.12×10-15
decreased circulating cholesterol level Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 8.84×10-05
limb grasping Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 4.44×10-07
decreased mean corpuscular hemoglobin Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 2.44×10-06
decreased hemoglobin content Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 6.23×10-05
increased heart weight Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 1.50×10-06
abnormal behavior Wdr47tm1a(EUCOMM)Wtsi HOM   Early adult 7.22×10-05
abnormal skin morphology Wdr47tm1a(EUCOMM)Wtsi HOM   Early adult 2.96×10-05
decreased body weight Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 6.33×10-10
absent pinna reflex Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 2.56×10-09
increased blood uric acid level Wdr47tm1a(EUCOMM)Wtsi HOM Early adult 2.90×10-09
abnormal skin pigmentation Wdr47tm1a(EUCOMM)Wtsi HOM   Early adult 3.33×10-05

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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 N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine 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)
Esophagus N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 100% (2 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 50% (1 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote Not available
Stomach N/A heterozygote 100% (2 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 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.

Histopathology

Images

13 Images

Legacy Phenotype Associated Images

View all 153 images

Human diseases caused by Wdr47 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 Wdr47 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Hyperuricemia, Anemia ORPHA:371
Lesch-Nyhan Syndrome
Hyperuricemia, Anemia ORPHA:510
Glycogen Storage Disease Vii
Increased total bilirubin, Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphogl... OMIM:232800
Congenital Amegakaryocytic Thrombocytopenia
Melanocytic nevus, Thrombocytopenia, Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin ORPHA:3319
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Hyperuricemia, Anemia OMIM:613092
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Hyperuricemia, Neutropenia OMIM:617056
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Leukopenia, Failure to thrive, Hypomagnesemia, Anemia OMIM:613845
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Decreased plasma carnitine, Hyperuricemia, Hepatomegaly, Anemia, Hyperammonemia OMIM:246450
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia OMIM:609886
Chylomicron Retention Disease
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... OMIM:246700
Juvenile Paget Disease
Melanocytic nevus, Abnormality of retinal pigmentation, Hyperuricemia ORPHA:2801
Lactic Acidosis, Chronic Adult Form
Hyperuricemia OMIM:150170
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio OMIM:613978
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Hyperuricemia ORPHA:543
Lesch-Nyhan Phenotype With Normal Hgprt
Hyperuricemia OMIM:308950
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricemia, Cardiomyopathy ORPHA:3222
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Hyperuricemia OMIM:162000
Purine Nucleoside Phosphorylase Deficiency
Tremor, Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thromboc... OMIM:613179
Late-Onset Isolated Acth Deficiency
Vitiligo, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Weight loss, Normocy... ORPHA:199299
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Acute Adrenal Insufficiency
Vitiligo, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Increased circulatin... ORPHA:95409
Lesch-Nyhan Syndrome
Megaloblastic anemia, Opisthotonus, Hyperuricemia, Hyperuricosuria OMIM:300322
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Hyperuricemia, Decreased HDL cholesterol concentration OMIM:604367
Distal 16P11.2 Microdeletion Syndrome
Hyperuricemia, Obesity ORPHA:261222
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Pparg-Related Familial Partial Lipodystrophy
Hyperuricemia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypertrophic cardiomyopathy ORPHA:79083
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Hepatomegaly, Hyperammonemia ORPHA:134
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Microcytic anemia, Splenomegaly ORPHA:231242
Addison Disease
Vitiligo, Thiamine-responsive megaloblastic anemia, Decreased circulating cortisol level, Hyponat... ORPHA:85138
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Hepatomegaly, Leukopenia, Anemia, Dilat... ORPHA:20
Alstrom Syndrome
Pigmentary retinopathy, Hyperuricemia, Hepatomegaly, Hypertriglyceridemia, Truncal obesity, Decre... OMIM:203800
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Hyperuricemia OMIM:240000
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Elevated circulating methylsuccinic acid concentration, Failure... OMIM:618156
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Failure to thrive, Hypocholesterolemia OMIM:616834
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hyperuricemia, Hprt-Related
Hyperuricosuria, Hyperuricemia OMIM:300323
Neuroleptic Malignant Syndrome
Hypocalcemia, Tremor, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Hyperuricemia, E... ORPHA:94093
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Pigmentary retinopathy, Abnormal erythrocyte morphology, Decreased body wei... ORPHA:96180
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Failure to thrive, Steatorrhea, Hypocholesterolemia OMIM:266510
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Retinohepatoendocrinologic Syndrome
Elevated circulating creatine kinase concentration, Abnormality of skin pigmentation OMIM:268040
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Combined Deficiency Of Factor V And Factor Viii
Hyperuricemia, Hyperlipidemia ORPHA:35909
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Steatorrhea, Hypocholesterolemia, Hepatomegaly, Failure to thrive, Splenomegaly OMIM:607765
Chylomicron Retention Disease
Acanthocytosis, Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Hepatomegaly, Thrombocytopenia, Anemia, Splen... ORPHA:848
Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia OMIM:300661
Azotemia, Familial
Azotemia OMIM:109160
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hyperuricemia, Hydroxyprolinemia OMIM:239000
Potocki-Lupski Syndrome
Atrial septal defect, Hypocholesterolemia, Small for gestational age, Failure to thrive, Patent f... OMIM:610883
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia ORPHA:411536
Glycogen Storage Disease Ib
Xanthelasma, Enlarged kidney, Hyperuricemia, Neutropenia, Hepatomegaly, Hyperlipidemia OMIM:232220
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia ORPHA:348
Alpha-Thalassemia
Hemolytic anemia, Microcytic anemia, Splenomegaly, Anemia, Hypersplenism, Abnormal hemoglobin ORPHA:846
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation, Conjugated hyperbilirubinemia OMIM:237450
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis ORPHA:79455
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Hypercholesterolemia, Enlarged kidney, Chronic neutropenia, Hyperuricemia, Hepatomeg... ORPHA:79259
Cystinuria
Hyperuricemia ORPHA:214
Abetalipoproteinemia
Abnormality of retinal pigmentation, Acanthocytosis, Hypotriglyceridemia, Reticulocytosis, Hyperb... ORPHA:14
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Hyperpigmentation of the ... OMIM:604250
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Hyperuricosuria, Hyperuricemia ORPHA:411543
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Fair hair, Hepatomegaly, Cardiomegaly, Fai... OMIM:269920
Glycogen Storage Disease Ia
Xanthelasma, Enlarged kidney, Hyperuricemia, Hepatomegaly, Hyperlipidemia OMIM:232200
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Hypouricemia, Autoimmune hemolytic anemia, Decreased proportion of C... ORPHA:760
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Ne... OMIM:618892
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Hypoalbuminemia, Obesity ORPHA:88643
Hereditary Fructose Intolerance
Hypophosphatemia, Hypermagnesemia, Hyperuricemia, Hepatomegaly ORPHA:469
Medullary cystic kidney disease 2
Hyperuricemia OMIM:603860
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Hirsutism, Skeletal Dysplasia, And Mental Retardation
Hyperuricemia OMIM:142625
Hypomagnesemia 3, Renal
Hypomagnesemia, Hyperuricemia, Failure to thrive OMIM:248250
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Hepatomegaly OMIM:616026
Fructose Intolerance, Hereditary
Hypophosphatemia, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hepatomegaly, Failure to thr... OMIM:229600
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Pericardial effusion, Hypocholesterolemia, Hepatomegaly, Hypoalbuminemia, Failure... OMIM:212065
Tangier Disease
Coronary artery stenosis, Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Left ventr... ORPHA:31150
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypokalemia, Failure to thrive OMIM:227810
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Cardiom... OMIM:618838
Lethal Ataxia With Deafness And Optic Atrophy
Hypouricemia, Abnormal erythrocyte enzyme level ORPHA:1187
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion
Hypouricemia OMIM:307830
Xanthinuria, Type Ii
Hypouricemia OMIM:603592
Hypouricemia, Renal, 2
Hypouricemia OMIM:612076
Cockayne Syndrome
Abnormality of retinal pigmentation, Pigmentary retinopathy, Intention tremor, Hyperuricemia, Act... ORPHA:191
Hypouricemia, Hypercalcinuria, And Decreased Bone Density
Hypouricemia OMIM:242050
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Eisenmenger Syndrome
Iron deficiency anemia, Hypochromic microcytic anemia, Atrial septal defect, Bacterial endocardit... ORPHA:97214
Beta-Thalassemia Major
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Persistence of hemoglobin F, Decr... ORPHA:231214
Molybdenum Cofactor Deficiency, Complementation Group C
Hypouricemia, Opisthotonus OMIM:615501
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Persistence of hemoglobin F, Decr... ORPHA:231226
Glycogen Storage Disease Ic
Hepatomegaly, Xanthelasma, Hyperuricemia, Hyperlipidemia OMIM:232240
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Hypouricemia, Renal, 1
Hypouricemia OMIM:220150
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased LDL cholesterol concentration, Hypocholesterolemia OMIM:256840
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Polycythemia, Methemoglobinemia OMIM:250800
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia OMIM:618810
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Endocardial fibroelastosis, Hepatomegaly, Cardiomegaly, Failure to th... OMIM:212140
Familial Osteodysplasia, Anderson Type
Hyperuricemia ORPHA:2769
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Failure to thrive OMIM:616353
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Anemia ORPHA:79402
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hemato... ORPHA:231222
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentr... OMIM:600649
Hereditary Renal Hypouricemia
Hypouricemia, Hyperuricosuria, Increased blood urea nitrogen ORPHA:94088
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration, Hyperammonemia, T... OMIM:255120
Hereditary Xanthinuria
Hypouricemia, Hyperxanthinemia ORPHA:3467
Molybdenum Cofactor Deficiency, Complementation Group B
Hypouricemia, Opisthotonus OMIM:252160
Cronkhite-Canada Syndrome
Abnormality of skin pigmentation, Hepatomegaly, Cachexia, Anemia, Splenomegaly, Generalized hyper... ORPHA:2930
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Hepatomegaly, Hyperpigmentation of the skin, Cardio... OMIM:235200
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormality of skin pigmentation, Premature graying of hair, Abnormal circulating lipid concentra... ORPHA:1979
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Steatorrhea, Hepatomegaly, Pancytopenia, Thrombocytopen... OMIM:260400
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hyperuricemia ORPHA:93111
Kaufman Oculocerebrofacial Syndrome
Ventricular septal defect, Atrial septal defect, Failure to thrive, Hypocholesterolemia OMIM:244450
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cardiome... OMIM:618886
Molybdenum Cofactor Deficiency, Complementation Group A
Hypouricemia, Opisthotonus OMIM:252150
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Failure to thrive, Microcytic anemia ORPHA:98791
Primary Fanconi Renotubular Syndrome
Decreased plasma carnitine, Hypophosphatemia, Hypouricemia, Hypophosphatemic rickets, Bicarbonatu... ORPHA:3337
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Generalized bronze hyperpigmentation, Abnormality o... ORPHA:465508
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Abnormality of skin pigmentation, Hyperlipidemia, Splenomegaly ORPHA:1414
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomega... OMIM:618278
Fanconi Anemia, Complementation Group E
Abnormality of skin pigmentation, Abnormal heart morphology, Neutropenia, Reticulocytopenia, Panc... OMIM:600901
Danon Disease
Myocardial fibrosis, Dilated cardiomyopathy, Cardiomegaly, Elevated circulating creatine kinase c... OMIM:300257
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Abnormal heart morphology, Neutropenia, Reticulocytopenia, Panc... OMIM:227650
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Pancytopenia OMIM:613988
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Iris hypopigmentation, Failure to thrive in infancy, Hepatomega... ORPHA:834
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of skin pigmentation, Leukemia, Cutaneous mastocytosis ORPHA:79456
Hypoadrenocorticism, Familial
Hyperkalemia, Abnormality of skin pigmentation, Hyponatremia OMIM:240200
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age, Anemia, D... ORPHA:330015
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Atrial septal defect, Pure red... ORPHA:124
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Ventricular septal defect, Elevated 7-dehydrocholesterol, Hypocholesterolem... OMIM:270400
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Obesity OMIM:141750
Mastocytosis
Abnormality of skin pigmentation, Chronic leukemia, Hepatomegaly, Hypercalcemia, Splenomegaly, Ma... ORPHA:98292
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation, Atrial septal defect, Cardiomyopathy ORPHA:53296
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypochromic microcytic anemia, Ventricular septal defect, Perimembranous ventricular septal defec... OMIM:301040
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Gaucher Disease
Abnormality of skin pigmentation, Tremor, Abnormal heart valve morphology, Mitral valve calcifica... ORPHA:355
Fanconi Anemia, Complementation Group D2
Abnormality of skin pigmentation, Abnormal heart morphology, Neutropenia, Reticulocytopenia, Panc... OMIM:227646
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Polysplenia, D... OMIM:306955
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626

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
Urinary bladder - process of degenerative change Wdr47tm1a(EUCOMM)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 Wdr47.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Wdr47, Camsaps, and Katanin cooperate to generate ciliary central microtubules. Nature communications (October 2021) Wdr47tm1a(EUCOMM)Wtsi PMC8490363
Wdr47 Controls Neuronal Polarization through the Camsap Family Microtubule Minus-End-Binding Proteins. Cell reports (April 2020) Wdr47tm1c(EUCOMM)Wtsi Wdr47tm1a(EUCOMM)Wtsi 32320668
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Wdr47tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Wdr47tm1a(EUCOMM)Wtsi PMC6459510
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Wdr47tm1c(EUCOMM)Wtsi Wdr47tm1a(EUCOMM)Wtsi Wdr47tm1b(EUCOMM)Wtsi PMC5676932

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Wdr47tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Wdr47tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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