Gene Summary

Name:
WD repeat, SAM and U-box domain containing 1
Synonyms:
1700048E19Rik,  2610014F08Rik

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
abnormal lens morphology Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 1.16×10-05
increased circulating creatinine level Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 2.28×10-05
decreased startle reflex Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 3.51×10-05
long tibia Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 1.14×10-11
decreased circulating serum albumin level Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 2.28×10-06
preweaning lethality, incomplete penetrance Wdsub1tm1b(EUCOMM)Wtsi HOM   Early adult 0.000497
decreased total retina thickness Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 3.57×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Electrocardiogram (ECG)

Waveform Image

36 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Human diseases caused by Wdsub1 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 Wdsub1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing, Hypoalbuminemia, Hypoproteinemia OMIM:241600
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cystinosis, Adult Nonnephropathic
Abnormal retinal morphology, Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Alg6-Cdg
Retinal degeneration, Shortening of all distal phalanges of the fingers, Rod-cone dystrophy, Brac... ORPHA:79320
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Hypoalbuminemia OMIM:603278
Cholestasis, Progressive Familial Intrahepatic, 10
Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypercholesterolemia, ... OMIM:619868
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Postaxial polydactyly, Attenuation of retinal blood vessels, Cone/cone-rod dy... OMIM:614500
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, Hypoalbuminemia OMIM:246700
Retinitis Pigmentosa 84
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy OMIM:618220
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Acetabular spurs, Metaphyseal widening, Attenuation of retinal blood vessels, Brachydactyly, Rhiz... OMIM:614376
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Head tremor, Chor... ORPHA:64753
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Antecubital pterygium, Metaphyseal wide... ORPHA:2502
Azotemia, Familial
Azotemia OMIM:109160
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Hypoalbuminemia OMIM:618805
Coats Disease
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... ORPHA:190
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Elevated circulating creatine kinase concentration, Tremor, Hypoalbuminemia, Hypercholesterolemia... OMIM:208920
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia OMIM:617156
Megalocornea
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... OMIM:309300
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoalbuminemia, Hypoproteinemia OMIM:600351
Galloway-Mowat Syndrome 6
Clinodactyly of the 5th finger, Hypoalbuminemia OMIM:618347
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... OMIM:193230
Nephrotic Syndrome, Type 11
Arachnodactyly, Partial duplication of thumb phalanx, Clinodactyly, Hypoalbuminemia, Hypercholest... OMIM:616730
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Hypoalbuminemia, Decreased circulating copper concentration, Conjunctivitis, Decreas... OMIM:242150
Rajab Interstitial Lung Disease With Brain Calcifications 2
Arachnodactyly, Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration OMIM:614292
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Talipes equinovarus, Hypoalbuminemia, Camptodactyly OMIM:608104
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... OMIM:616050
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hyperlysinemia, Hyperbilirubinemia, Increased LDL cholesterol concentration, Abnormal circulating... ORPHA:247598
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Fanconi Renotubular Syndrome 3
Bowing of the legs, Elevated circulating creatinine concentration, Aminoaciduria OMIM:615605
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Clubbing OMIM:614441
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Immunodeficiency 27A
Hypoplasia of the femoral head, Hypoalbuminemia OMIM:209950
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Short long bone, Metaphyseal i... OMIM:300106
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Tremor, Decreased serum creatinine, Hypocystinemia OMIM:617744
C3 Glomerulopathy
Central serous chorioretinopathy, Elevated circulating creatinine concentration, Yellow/white les... ORPHA:329918
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... ORPHA:247585
Nephrotic Syndrome, Type 1
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Coach Syndrome 2
Elevated circulating creatinine concentration, Chorioretinal coloboma OMIM:619111
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Clubbing of fingers, Hypoalbuminemia, Hypoproteinemia, Clubbing OMIM:226300
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Chronic Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... ORPHA:529799
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... OMIM:267700
Cerebral Creatine Deficiency Syndrome 2
Tremor, Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine OMIM:612736
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Galloway-Mowat Syndrome 1
Talipes equinovarus, Slender finger, Opacification of the corneal stroma, Camptodactyly, Optic at... OMIM:251300
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Mucopolysaccharidosis-Plus Syndrome
Flared iliac wing, Metaphyseal widening, Chorioretinal hypopigmentation, Optic atrophy, Hypoalbum... OMIM:617303
Exfoliation Syndrome
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... OMIM:177650
Congenital Analbuminemia
Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia ORPHA:86816
Wolcott-Rallison Syndrome
Metaphyseal dysplasia, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia ORPHA:1667
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating creatine kinase concentration, Abnormal circulating methionine concentration... ORPHA:88618
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia OMIM:300539
Refractory Celiac Disease
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:398063
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped metacarpal epiphyses, Metaphyseal irregularity, Cone-shaped epiphyses of the phalange... OMIM:250220
Papillorenal Syndrome
Macular degeneration, Lens luxation, Retinal coloboma, Morning glory anomaly, Chorioretinal atrop... OMIM:120330
Leishmaniasis
Hypoalbuminemia ORPHA:507
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Nephrotic Syndrome, Type 14
Hypertriglyceridemia, Hypoalbuminemia OMIM:617575
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Elevated circulating C-reacti... ORPHA:158061
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Leri-Weill Dyschondrosteosis
Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... OMIM:127300
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hyperbilirubinemia, Hypoalbuminemia OMIM:251880
Abetalipoproteinemia
Corneal ulceration, Abnormal circulating apolipoprotein concentration, Abnormality of retinal pig... ORPHA:14
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration OMIM:607665
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Aniridia 2
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia OMIM:617141
Alg12-Cdg
Clinodactyly of the 5th finger, Talipes equinovarus, Retinal detachment, Overlapping fingers, Lon... ORPHA:79324
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Wilson Disease
Increased circulating copper concentration, Hyperbilirubinemia, Aminoaciduria, Hand tremor, Hypou... OMIM:277900
Avian Influenza
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... ORPHA:454836
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Renal Tubular Acidosis, Distal, 1
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia OMIM:179800
Xfe Progeroid Syndrome
Corneal scarring, Optic atrophy, Attenuation of retinal blood vessels, Hypoalbuminemia OMIM:610965
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Syndactyly, Foot oligodactyly, Fibular aplasia OMIM:246570
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration, Retinal h... ORPHA:86839
Aicardi-Goutieres Syndrome 9
Optic atrophy, Dystonia, Chorioretinal atrophy, Hypoalbuminemia OMIM:619487
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated c... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Optic atrophy, Chorioretinal hyperpigmentation, Hypoalbuminemia OMIM:618329
Aniridia-Intellectual Disability Syndrome
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia ORPHA:1068
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia ORPHA:79233
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... OMIM:603553
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Talipes equinovarus, Small hand, Camptodactyly, Hypoplastic iliac wing, Hypoalbuminemia, Short fo... OMIM:235510
Congenital Disorder Of Glycosylation, Type Ia
Rod-cone dystrophy, Intention tremor, Tremor, Hypocholesterolemia, Hypoalbuminemia OMIM:212065
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia ORPHA:540
Hepatoportal Sclerosis
Hyperbilirubinemia, Hypoalbuminemia ORPHA:64743
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Decreased plasma carnitine, Co... ORPHA:89842
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Decreased HDL cholesterol concentration, Decreased serum creatinine, Astigmatism, San... OMIM:618885
Fibular Hemimelia
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... ORPHA:93323
Primary Intestinal Lymphangiectasia
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Clubbing OMIM:174900
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Galloway-Mowat Syndrome 3
Arachnodactyly, Hip dislocation, Hypoalbuminemia, Camptodactyly OMIM:617729
Bacterial Toxic-Shock Syndrome
Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulating creatine kin... ORPHA:36234
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Leigh Syndrome With Nephrotic Syndrome
Hypoalbuminemia ORPHA:255249
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Norrie Disease
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... OMIM:310600
Amoebic Keratitis
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal posterior eye segme... ORPHA:67043
Diarrhea 10, Protein-Losing Enteropathy Type
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia OMIM:618183
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Abnormal retinal vascular morphology, Macular edema, Retinal neovascularization, Avascular necros... ORPHA:247691
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad metacarpals, Bowing of the legs, Broad phalanx, Short metacarpal, Flared iliac wing, Triang... OMIM:271665
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia OMIM:619055
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Juvenile Nephropathic Cystinosis
Abnormal cornea morphology, Hypophosphatemia, Hypokalemia, Hypocalcemia, Aminoaciduria, Corneal c... ORPHA:411634
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Iliac crest serration, Rhizomelic arm shortening, Long fibula, Short palm,... ORPHA:93317
Thrombotic Thrombocytopenic Purpura, Hereditary
Tremor, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:274150
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... ORPHA:91547
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation, Conjunctivitis, Hypoalbuminemia ORPHA:505248
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated alpha-fetoprotein, Elevated circulating creatinine concentration, Hypokalemia OMIM:613095
Smith-Lemli-Opitz Syndrome
Overlapping toe, Elevated 7-dehydrocholesterol, 2-3 toe cutaneous syndactyly, Short toe, 2-3 toe ... OMIM:270400
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Al Amyloidosis
Increased circulating NT-proBNP concentration, Hypoalbuminemia ORPHA:85443
Juvenile Polyposis Of Infancy
Broad thumb, Midclavicular hypoplasia, Hypoalbuminemia, Clubbing of fingers, Broad phalanx of the... ORPHA:79076
Trichohepatoenteric Syndrome 1
Avascular necrosis of the capital femoral epiphysis, Hypermethioninemia, Abnormality of iron home... OMIM:222470
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Corneal ulceration, Elevated circulating creatinine concentration, Recurrent corneal erosions, In... OMIM:223900
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration ORPHA:186
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypomagnesemia, Hypocalcemia, Decreased prealbumin level, Abnormal blood ion concentration, Hypoa... ORPHA:37042
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Flared metaphysis, Irregular epiphyses, Short femoral neck, Carpal bone... OMIM:610442
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration, Retinal dystrophy OMIM:266900
Sickle Cell Anemia
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia ORPHA:232
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Corneal opacity, Hypoalbuminemia ORPHA:79396
Cataract 15, Multiple Types
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract OMIM:615274
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration ORPHA:79126
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating fatty-acid concentration, Abnormal cir... ORPHA:2298
Tubulointerstitial Nephritis And Uveitis Syndrome
Vitreous hemorrhage, Elevated circulating C-reactive protein concentration, Aminoaciduria, Abnorm... ORPHA:91500
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hyperekplexia 2
Exaggerated startle response, Astigmatism OMIM:614619
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypocholesterolemia, Decreased prealbumin level, H... ORPHA:90363
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Hypoalbuminemia ORPHA:567546
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:235400
Marburg Hemorrhagic Fever
Hypokalemia, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:99826
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response, Retinal detachment, Elevated circulating creatine kinase concentrat... OMIM:253800
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Optic disc pallor, Exaggerated startle response OMIM:609541
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Optic disc pallor, Exaggerated startle response ORPHA:320406
Hepatocellular Carcinoma
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia ORPHA:88673
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, E... ORPHA:85450
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration ORPHA:439232
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Cherry red spot of the macula ORPHA:309246
Oligomeganephronia
Elevated circulating creatinine concentration, Optic disc coloboma ORPHA:2260
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Glycine Encephalopathy With Normal Serum Glycine
Overlapping toe, Talipes equinovarus, Exaggerated startle response, Optic atrophy, Hip dislocatio... OMIM:617301
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Structural Heart Defects And Renal Anomalies Syndrome
Overlapping toe, Elevated circulating creatinine concentration OMIM:617478
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response OMIM:618598
Tay-Sachs Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:272800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Biliary, Renal, Neurologic, And Skeletal Syndrome
Increased circulating ferritin concentration, Broad first metatarsal, Hyperbilirubinemia, Postaxi... OMIM:619534
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Blepharospasm, Exaggerated startle response, Oculogyric crisis, Athetosis, Choreoath... OMIM:608643
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia OMIM:613658
Hyperekplexia 1
Hip dislocation, Exaggerated startle response OMIM:149400
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Gm1 Gangliosidosis Type 1
Broad metacarpals, Flattened femoral head, Exaggerated startle response, Flared iliac wing, Cherr... ORPHA:79255
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Hyperextensibility of the finger joints, Long fingers, Optic atroph... ORPHA:521426
Tay-Sachs Disease
Exaggerated startle response, Laryngeal dystonia, Cherry red spot of the macula, Increased serum ... ORPHA:845
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... ORPHA:90038
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia OMIM:619381
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Postaxial polydactyly, Long fingers, Optic atrophy, Rocker bottom foot OMIM:617527
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Asparagine Synthetase Deficiency
Large hands, Exaggerated startle response OMIM:615574
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperphosphatemia, Hyperkalemia ORPHA:340
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus OMIM:184850
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Sandhoff Disease
Exaggerated startle response, Cherry red spot of the macula OMIM:268800
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Pmm2-Cdg
Photoreceptor layer loss on macular OCT, Rod-cone dystrophy, Long fingers, Cataract, Hypoalbumine... ORPHA:79318
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Yellow Fever
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... ORPHA:99829
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Clinodactyly of the 5th finger, Exaggerated startle response, Short 5th finger, Tapered finger, S... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Decreased serum iron, Optic disc pallor, Hip dysplasia, Dystonia ORPHA:438213

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.

There is no histopathology data for Wdsub1

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 Wdsub1.

No publications found that use IMPC mice or data for Wdsub1.

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MGI Allele Allele Type Produced
Wdsub1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Wdsub1tm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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