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Gene: Wdsub1 MGI:1919387

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Gene Summary

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

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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 lens morphology Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 1.16×10-05
decreased startle reflex Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 3.11×10-05
preweaning lethality, incomplete penetrance Wdsub1tm1b(EUCOMM)Wtsi HOM   Early adult 0.000497
long tibia Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 1.14×10-11
increased circulating creatinine level Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 2.28×10-05
decreased circulating serum albumin level Wdsub1tm1b(EUCOMM)Wtsi HET Early adult 2.28×10-06

Download data as:  TSV  XLS

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Electrocardiogram (ECG)

Waveform Image

36 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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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
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Increased total bilirubin, Increased serum bile acid concentration, Hypercholest... OMIM:619868
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Diarrhea 13
Hypoalbuminemia OMIM:620357
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Head tremor, Postural tremor, Elevated circulating creatine kinase concentration... ORPHA:64753
Chylomicron Retention Disease
Hypoalbuminemia, Hypocholesterolemia, Decreased LDL cholesterol concentration, Hypotriglyceridemia OMIM:246700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Short femoral neck, Flared metaphysis, Short palm, Bowing of the legs, Aplasia/Hypoplasia of meta... ORPHA:2502
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Immunodeficiency 43
Hypoalbuminemia, Radial bowing, Decreased circulating beta-2-microglobulin level, Hypoplasia of t... OMIM:241600
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Cataract OMIM:618805
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Dystonia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentra... OMIM:616267
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Brachydactyly, Shortening of all distal... ORPHA:79320
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration, Corneal crystals OMIM:219750
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Cataract, Rhizomelia, Short iliac bones, Elevated circulating creatinine concentration, Acetabula... OMIM:614376
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Tremor, Elevated circulating creatine kinase concentration, Hypercholesterolemia... OMIM:208920
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypermethioninemia, Abnorm... ORPHA:247598
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Tremor, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Keratoconus, Increased serum bile acid concentration, Conjunctivitis, Decreased ... OMIM:242150
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Clinodactyly of the 5th finger OMIM:618347
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Arachnodactyly, Hypertriglyceridemia OMIM:619013
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Hypercholest... OMIM:616730
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Flattened epiphysis, Short low... ORPHA:93356
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Talipes equinovarus, Camptodactyly OMIM:608104
Autoinflammation With Infantile Enterocolitis
Elevated circulating C-reactive protein concentration, Increased circulating ferritin concentrati... OMIM:616050
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Clubbing OMIM:614441
Hyperferritinemia With Or Without Cataract
Cataract, Nuclear cataract, Increased circulating ferritin concentration, Pulverulent cataract, A... OMIM:600886
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Immunodeficiency 27A
Hypoalbuminemia, Hypoplasia of the femoral head OMIM:209950
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Bowing of the legs OMIM:615605
Citrullinemia Type Ii
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, Acute hyperammo... ORPHA:247585
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:617872
Cerebral Creatine Deficiency Syndrome 2
Elevated circulating guanidinoacetic acid concentration, Tremor, Decreased serum creatinine OMIM:612736
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypernatremia, Abnormal conju... ORPHA:529799
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... OMIM:300539
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Hip dislocation OMIM:608776
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia, Clubbing, Clubbing of fingers OMIM:226300
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin ORPHA:86816
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Wolcott-Rallison Syndrome
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Metaphyseal dysplasia ORPHA:1667
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Abnormal circulating homocysteine concentration, Elevated ci... ORPHA:88618
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia OMIM:617056
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration OMIM:619468
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Lymphoproliferative Syndrome, X-Linked, 1
Elevated circulating C-reactive protein concentration, Hypoalbuminemia OMIM:308240
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Cone-shaped metacarpal epiphyses, Rhizomelia, Metaphyseal cuppin... OMIM:250220
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Eosinophilic Gastroenteritis
Elevated circulating C-reactive protein concentration, Hypoalbuminemia ORPHA:2070
Leishmaniasis
Hypoalbuminemia ORPHA:507
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Cataract, Hand clenching, Slender finger, Hypoplasia of the iris, Talipes equino... OMIM:251300
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Macrophage Activation Syndrome
Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Increased circulating fer... ORPHA:158061
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Avian Influenza
Elevated circulating C-reactive protein concentration, Conjunctivitis, Elevated circulating creat... ORPHA:454836
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Dystonia, Hyperuricemia ORPHA:79233
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Reni Syndrome
Hypoalbuminemia, Hypertriglyceridemia OMIM:617575
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Postural tremor, Action tremor, Intention tremor OMIM:254900
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc OMIM:617093
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Congenital Disorder Of Glycosylation, Type Iit
Small hand, Hypotriglyceridemia, Sandal gap, Astigmatism, Decreased HDL cholesterol concentration... OMIM:618885
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cataract, Tapered toe, Increased total bilirubin, Elevated circulating creatinine concentration, ... OMIM:608836
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... ORPHA:89842
Renal Tubular Acidosis, Proximal
Elevated circulating creatinine concentration OMIM:179830
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Acetabular dysplasia, Flared iliac wing, Metaphyseal widening, Clubbing OMIM:617303
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Alg12-Cdg
Hypoalbuminemia, Sandal gap, Hypocholesterolemia, Overlapping fingers, Hyponatremia, Talipes equi... ORPHA:79324
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Juvenile Polyposis Syndrome
Hypoalbuminemia, Clubbing, Hypokalemia OMIM:174900
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Small hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, Talipes equinov... OMIM:235510
Congenital Enterovirus Infection
Hypoalbuminemia, Hyperammonemia ORPHA:292
Wilson Disease
Hypouricemia, Hypoalbuminemia, Sunflower cataract, Aminoaciduria, Hand tremor, Kayser-Fleischer r... OMIM:277900
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:540
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia ORPHA:247353
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Abetalipoproteinemia
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Abnormal circulating apolipoprotein co... ORPHA:14
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Intellectual Developmental Disorder, Autosomal Recessive 54
Exaggerated startle response OMIM:617028
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Hyperbilirubinemia, Elevated circulating alpha-fetopr... OMIM:251880
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine ORPHA:54057
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... OMIM:617156
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Intention tremor, Tremor OMIM:212065
Hypouricemia, Renal, 1
Hypouricemia, Elevated circulating creatinine concentration OMIM:220150
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Arachnodactyly, Camptodactyly, Hip dislocation OMIM:617729
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612924
Xfe Progeroid Syndrome
Hypoalbuminemia, Corneal scarring OMIM:610965
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Aminoaciduria, Elevated circulating creatine kinase concentration OMIM:619055
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... OMIM:613095
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612926
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia OMIM:618183
Relapsing Fever
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:91547
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Dystonia OMIM:619487
Juvenile Nephropathic Cystinosis
Hypouricemia, Aminoaciduria, Abnormal cornea morphology, Corneal crystals, Elevated circulating c... ORPHA:411634
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Abnormal circulating albumin concentration ORPHA:86839
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Elevated circulating creatinine concentration, Corneal ulceration, In... OMIM:223900
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Thrombotic Thrombocytopenic Purpura, Hereditary
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Tremor OMIM:274150
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl... ORPHA:93317
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Hypernatremia OMIM:615508
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:612925
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Avascular necrosis... OMIM:222470
Hyperekplexia 2
Astigmatism, Exaggerated startle response OMIM:614619
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Broad metacarpals, Micromelia, Flared metaphysis,... OMIM:271665
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Cataract, 2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Short toe, S... OMIM:270400
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Midclavicular hypoplasia, Broad thumb, Broad phalanx of the toes, Clubbing of fi... ORPHA:79076
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab... ORPHA:37042
Preeclampsia
Elevated circulating creatinine concentration ORPHA:275555
Al Amyloidosis
Hypoalbuminemia, Increased circulating NT-proBNP concentration ORPHA:85443
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Short long bone, Reduced haptoglobin level OMIM:301110
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Carpal bone hypoplas... OMIM:610442
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration ORPHA:79126
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypoalbuminemia, Hyperlipidemia ORPHA:567546
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Corneal opacity ORPHA:79396
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration ORPHA:90060
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen OMIM:235400
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypocholesterolemia, Reduced circulating transferrin concentration, Decreased ci... ORPHA:90363
Primary Biliary Cholangitis
Hypoalbuminemia, Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hyperch... ORPHA:186
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Abnormal circulating fatty-acid concentration, Hypotriglyceridemia, Abnormal cir... ORPHA:2298
Papillorenal Syndrome
Elevated circulating creatinine concentration, Lens luxation, Cataract OMIM:120330
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Conjunctivitis ORPHA:505248
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... ORPHA:99826
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Cataract 5, Multiple Types
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Avascular necrosis of the capital femoral epiphysis ORPHA:247691
Hereditary Amyloidosis With Primary Renal Involvement
Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... ORPHA:85450
Hypomagnesemia 3, Renal
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... OMIM:248250
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cataract, Tremor, Exaggerated startle response OMIM:620327
Spastic Tetraplegia And Axial Hypotonia, Progressive
Overlapping toe, Exaggerated startle response OMIM:618598
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen ORPHA:230
Aromatic L-Amino Acid Decarboxylase Deficiency
Blepharospasm, Oculogyric crisis, Limb dystonia, Limb tremor, Torticollis, Exaggerated startle re... OMIM:608643
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia OMIM:174000
Hyperekplexia 1
Hip dislocation, Exaggerated startle response OMIM:149400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypocalcemia OMIM:613658
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Clinodactyly of the 5th finger, Tremor, Exaggerated startle response OMIM:618056
Kawasaki Disease
Elevated circulating C-reactive protein concentration, Conjunctivitis, Conjunctival hyperemia, Hy... ORPHA:2331
Senior-Loken Syndrome 1
Elevated circulating creatinine concentration OMIM:266900
Glycine Encephalopathy With Normal Serum Glycine
Hand clenching, Overlapping toe, Hip contracture, Talipes equinovarus, Exaggerated startle respon... OMIM:617301
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration, Overlapping toe OMIM:617478
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Sickle Cell Anemia
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Finger dactylitis ORPHA:232
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Primary Sclerosing Cholangitis
Hypoalbuminemia ORPHA:171
Gm2 Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response ORPHA:309246
Gm1 Gangliosidosis Type 1
Broad long bone diaphyses, Acetabular dysplasia, Flared iliac wing, Short long bone, Exaggerated ... ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Cataract, Exaggerated startle response, Elevated circulating creatine kinase concentration OMIM:253800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Broad thumb, Increased circulating ferritin concentration, Elevated circulating ... OMIM:619534
Stiff Person Spectrum Disorder
Exaggerated startle response ORPHA:3198
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... ORPHA:90038
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Plaa-Associated Neurodevelopmental Disorder
Postaxial foot polydactyly, Long fingers, Postaxial hand polydactyly, Dystonia, Rocker bottom foo... ORPHA:521426
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Stiff-Person Syndrome
Opisthotonus, Exaggerated startle response OMIM:184850
Immunodeficiency 82 With Systemic Inflammation
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia OMIM:619381
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Tay-Sachs Disease
Increased serum beta-hexosaminidase, Laryngeal dystonia, Tremor, Exaggerated startle response, Dy... ORPHA:845
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response ORPHA:320406
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Cataract, Posterior synechiae of the anterior chamber, Elevated circulating creati... ORPHA:91500
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response OMIM:620114
Tay-Sachs Disease
Exaggerated startle response OMIM:272800
Combined Oxidative Phosphorylation Deficiency 58
Hyperprolinemia, Hyperalaninemia, Exaggerated startle response OMIM:620451
Asparagine Synthetase Deficiency
Large hands, Hypoasparaginemia, Tremor, Exaggerated startle response OMIM:615574
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response OMIM:272750
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Leukodystrophy, Hypomyelinating, 13
Exaggerated startle response OMIM:616881
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Postaxial polydactyly, Rocker bottom foot, Long fingers, Exaggerated startle response OMIM:617527
Hemorrhagic Fever-Renal Syndrome
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia ORPHA:340
Multiple Mitochondrial Dysfunctions Syndrome 7
Dystonia, Hyperglycinemia, Hypernatremia, Exaggerated startle response OMIM:620423
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response ORPHA:438216
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:449395
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Exaggerated startle response OMIM:617864
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Tapered finger, Short femur, Short humerus, Exaggerated startle response OMIM:618367
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Sandhoff Disease
Exaggerated startle response OMIM:268800
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response OMIM:617281
Yellow Fever
Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... ORPHA:99829
Pmm2-Cdg
Hypoalbuminemia, Cataract, Long fingers, Reduced thyroxin-binding globulin ORPHA:79318
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short 5th finger, Short thumb, Short finger, Broad toe, Exaggerated startle response, Clinodactyl... OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Decreased circulating iron concentration, Dystonia, Hip dysplasia, Exaggerated startle response 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.

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
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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