Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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.
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.
The table below shows human diseases predicted to be associated to Wnk2 by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Attention Deficit-Hyperactivity Disorder | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:143465 | |
Intellectual Developmental Disorder, Autosomal Recessive 54 | Hyperactivity | OMIM:617028 | |
Schizophrenia 15 | Hyperactivity | OMIM:613950 | |
Mental Retardation, Autosomal Recessive 2 | Attention deficit hyperactivity disorder | OMIM:607417 | |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) | Hyperactivity | DECIPHER:20 | |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) | Hyperactivity | DECIPHER:19 | |
Mental Retardation, Autosomal Dominant 45 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617600 | |
Mental Retardation, Autosomal Recessive 3 | Hyperactivity | OMIM:608443 | |
Autism, Susceptibility To, 20 | Attention deficit hyperactivity disorder | OMIM:618830 | |
Immunodeficiency 8 | Hyperactivity | OMIM:615401 | |
Microcephaly 25, Primary, Autosomal Recessive | Attention deficit hyperactivity disorder | OMIM:618351 | |
Developmental And Epileptic Encephalopathy 43 | Hyperactivity, Ataxia | OMIM:617113 | |
Mental Retardation, X-Linked 77 | Hyperactivity | OMIM:300454 | |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities | Attention deficit hyperactivity disorder | OMIM:617787 | |
Mental Retardation, Autosomal Dominant 52 | Hyperactivity | OMIM:617796 | |
Mental Retardation, Autosomal Dominant 33 | Hyperactivity | OMIM:616311 | |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria | Attention deficit hyperactivity disorder | OMIM:204750 | |
Intellectual Developmental Disorder, Autosomal Recessive 74 | Hyperactivity | OMIM:617169 | |
Mental Retardation, Autosomal Recessive 37 | Hyperactivity | OMIM:615493 | |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly | Hyperactivity, Inability to walk | OMIM:616657 | |
Intellectual Developmental Disorder, X-Linked 72 | Hyperactivity | OMIM:300271 | |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome | Hyperactivity | ORPHA:436151 | |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome | Hyperactivity | ORPHA:356996 | |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:617182 | |
Smith-Magenis syndrome | Hyperactivity | DECIPHER:8 | |
Microcephaly, Seizures, And Developmental Delay | Hyperactivity, Ataxia | OMIM:613402 | |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum | Dysmetria, Gait disturbance, Inability to walk, Hyperactivity | OMIM:618090 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:301008 | |
Insulin-Like Growth Factor I Deficiency | Hyperactivity | OMIM:608747 | |
Epilepsy, Progressive Myoclonic, 12 | Dysmetria, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking | OMIM:619191 | |
8p23.1 deletion syndrome | Hyperactivity | DECIPHER:39 | |
Intellectual Developmental Disorder, X-Linked 101 | Hyperactivity | OMIM:300928 | |
Aminoacylase 1 Deficiency | Hyperactivity | OMIM:609924 | |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient | Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... | OMIM:617384 | |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies | Hyperactivity | OMIM:619031 | |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant | Attention deficit hyperactivity disorder | OMIM:188570 | |
Encephalopathy, Progressive, With Or Without Lipodystrophy | Hyperactivity, Dystonia, Ataxia | OMIM:615924 | |
X-Linked Intellectual Disability, Stocco Dos Santos Type | Hyperactivity | ORPHA:85288 | |
Hyperprolinemia, Type I | Hyperactivity, Ataxia | OMIM:239500 | |
Morm Syndrome | Hyperactivity | ORPHA:75858 | |
Juvenile Huntington Disease | Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... | ORPHA:248111 | |
Mannosidosis, Beta A, Lysosomal | Hyperactivity | OMIM:248510 | |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations | Hyperactivity | OMIM:604317 | |
Glycine Encephalopathy | Hyperactivity, Lethargy | OMIM:605899 | |
Intellectual Developmental Disorder, Autosomal Recessive 70 | Attention deficit hyperactivity disorder | OMIM:618402 | |
Hyperlysinemia, Type I | Hyperactivity | OMIM:238700 | |
Intellectual Developmental Disorder, X-Linked 109 | Hyperactivity | OMIM:309548 | |
Fraxe Intellectual Disability | Hyperactivity | ORPHA:100973 | |
Intellectual Developmental Disorder, Autosomal Recessive 39 | Hyperactivity | OMIM:615541 | |
Dihydropyrimidine Dehydrogenase Deficiency | Hyperactivity, Lethargy | OMIM:274270 | |
Histidinemia | Hyperactivity | ORPHA:2157 | |
Intellectual Developmental Disorder, X-Linked 104 | Hyperactivity, Ataxia | OMIM:300983 | |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities | Hyperactivity, Broad-based gait | OMIM:619470 | |
Mental Retardation, Autosomal Dominant 43 | Hyperactivity | OMIM:616977 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type | Hyperactivity | OMIM:300434 | |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency | Hyperactivity, Dystonia, Ataxia | OMIM:612716 | |
Xq25 Microduplication Syndrome | Hyperactivity | ORPHA:521258 | |
Chromosome Xq25 Duplication Syndrome | Hyperactivity | OMIM:300979 | |
Coffin-Siris Syndrome 8 | Hyperactivity | OMIM:618362 | |
Lennox-Gastaut Syndrome | Hyperactivity, Falls | ORPHA:2382 | |
Chromosome 3Q29 Deletion Syndrome | Hyperactivity, Gait ataxia | OMIM:609425 | |
Alazami-Yuan Syndrome | Hyperactivity | OMIM:617126 | |
Optic Atrophy 11 | Dysmetria, Hyperactivity, Ataxia | OMIM:617302 | |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature | Hyperactivity | OMIM:618342 | |
Intellectual Developmental Disorder, Autosomal Recessive 71 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:618504 | |
Guanidinoacetate Methyltransferase Deficiency | Hyperactivity, Dystonia, Athetosis, Ataxia | ORPHA:382 | |
Gand Syndrome | Hyperactivity | OMIM:615074 | |
Phenylketonuria | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:261600 | |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 | Hyperactivity, Ataxia, Broad-based gait | ORPHA:411515 | |
Autosomal Recessive Non-Syndromic Intellectual Disability | Hyperactivity, Dystonia | ORPHA:88616 | |
Mental Retardation, Autosomal Recessive 13 | Hyperactivity | OMIM:613192 | |
Mental Retardation, Autosomal Recessive 61 | Hyperactivity | OMIM:617773 | |
Clark-Baraitser Syndrome | Hyperactivity | OMIM:617752 | |
Intellectual Developmental Disorder, Autosomal Recessive 38 | Unsteady gait, Hyperactivity | OMIM:615516 | |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features | Unsteady gait, Hyperactivity, Broad-based gait | OMIM:617865 | |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome | Hyperactivity, Broad-based gait | ORPHA:457260 | |
Intellectual Developmental Disorder, X-Linked 107 | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:301013 | |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia | Hyperactivity, Inability to walk | OMIM:618718 | |
Cln5 Disease | Dysmetria, Hyperactivity, Inability to walk, Dysdiadochokinesis, Ataxia, Truncal ataxia, Unsteady... | ORPHA:228360 | |
Landau-Kleffner Syndrome | Steppage gait, Hyperactivity, Attention deficit hyperactivity disorder, Gait ataxia | ORPHA:98818 | |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome | Hyperactivity, Shuffling gait, Broad-based gait | ORPHA:3077 | |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder | Hyperactivity, Dystonia, Inability to walk, Gait ataxia | ORPHA:500180 | |
Rubinstein-Taybi Syndrome 2 | Hyperactivity | OMIM:613684 | |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 | Hyperactivity | OMIM:615824 | |
Succinic Semialdehyde Dehydrogenase Deficiency | Hyperactivity, Ataxia | OMIM:271980 | |
Chromosome 15Q25 Deletion Syndrome | Hyperactivity, Attention deficit hyperactivity disorder | OMIM:614294 | |
Graves Disease, Susceptibility To, 1 | Hyperactivity | OMIM:275000 | |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome | Hyperactivity | ORPHA:397973 | |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome | Hyperactivity | ORPHA:85327 | |
Intellectual Developmental Disorder, X-Linked 21 | Hyperactivity | OMIM:300143 | |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies | Hyperactivity | OMIM:615286 | |
Severe Neurodegenerative Syndrome With Lipodystrophy | Hyperactivity, Gait ataxia, Ataxia, Limb dystonia | ORPHA:363400 | |
Rasmussen Subacute Encephalitis | Hyperactivity, Hemidystonia, Attention deficit hyperactivity disorder, Inability to walk | ORPHA:1929 | |
Fragile X Syndrome | Hyperactivity | OMIM:300624 | |
Hypomagnesemia, Seizures, And Mental Retardation 2 | Hyperactivity | OMIM:618314 | |
Usmani-Riazuddin Syndrome, Autosomal Dominant | Hyperactivity | OMIM:619467 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type | Hyperactivity, Broad-based gait | OMIM:300958 | |
Hyperthyroidism, Nonautoimmune | Hyperactivity | OMIM:609152 | |
Female Restricted Epilepsy With Intellectual Disability | Hyperactivity | ORPHA:101039 | |
Intellectual Developmental Disorder, X-Linked 30 | Hyperactivity | OMIM:300558 | |
X-Linked Creatine Transporter Deficiency | Hyperactivity, Dystonia, Athetosis, Ataxia | ORPHA:52503 | |
Clcn4-Related X-Linked Intellectual Disability Syndrome | Progressive cerebellar ataxia, Hyperactivity, Unsteady gait | ORPHA:485350 | |
Neurodevelopmental Disorder With Or Without Autism Or Seizures | Hyperactivity | OMIM:619239 | |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome | Hyperactivity | ORPHA:369939 | |
Myoclonic-Astatic Epilepsy | Unsteady gait, Hyperactivity, Attention deficit hyperactivity disorder, Ataxia | ORPHA:1942 | |
Mental Retardation, Autosomal Dominant 7 | Hyperactivity, Gait disturbance, Ataxia | OMIM:614104 | |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities | Hyperactivity | OMIM:618089 | |
Mend Syndrome | Hyperactivity | OMIM:300960 | |
Lamb-Shaffer Syndrome | Hyperactivity, Ataxia | ORPHA:530983 | |
Infantile Neuroaxonal Dystrophy | Dystonia, Gait disturbance, Hyperactivity, Ataxia, Unsteady gait | ORPHA:35069 | |
2Q23.1 Microdeletion Syndrome | Hyperactivity, Ataxia | ORPHA:228402 | |
Pitt-Hopkins-Like Syndrome 1 | Hyperactivity, Ataxia | OMIM:610042 | |
Acrodysostosis 2 With Or Without Hormone Resistance | Hyperactivity | OMIM:614613 | |
Neurodegeneration With Brain Iron Accumulation 2B | Dystonia, Dysmetria, Bradykinesia, Hyperactivity, Dysdiadochokinesis, Gait ataxia | OMIM:610217 | |
Myopathy With Extrapyramidal Signs | Hyperactivity, Dystonia, Ataxia, Difficulty walking | OMIM:615673 | |
Mucopolysaccharidosis, Type Iiia | Hyperactivity | OMIM:252900 | |
X-Linked Adrenoleukodystrophy | Hyperactivity, Gait disturbance, Attention deficit hyperactivity disorder | ORPHA:43 | |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency | Hyperactivity, Attention deficit hyperactivity disorder | ORPHA:73272 | |
Spastic Paraplegia 29, Autosomal Dominant | Hyperactivity | OMIM:609727 | |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome | Hyperactivity | ORPHA:391307 | |
Late Infantile Neuronal Ceroid Lipofuscinosis | Hyperactivity, Gait disturbance, Inability to walk, Ataxia | ORPHA:168491 | |
13Q12.3 Microdeletion Syndrome | Hyperactivity | ORPHA:412035 | |
Adenylosuccinase Deficiency | Hyperactivity, Inability to walk, Gait ataxia | OMIM:103050 | |
Mucopolysaccharidosis, Type Iiib | Hyperactivity | OMIM:252920 | |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion | Ataxia, Hyperactivity, Gait imbalance, Broad-based gait | ORPHA:98794 | |
X-Linked Cerebral Adrenoleukodystrophy | Gait disturbance, Dysmetria, Hyperactivity, Inability to walk, Ataxia, Difficulty walking | ORPHA:139396 | |
47,Xyy Syndrome | Hyperactivity, Attention deficit hyperactivity disorder | ORPHA:8 | |
Angelman Syndrome | Hyperactivity, Progressive gait ataxia, Broad-based gait | OMIM:105830 | |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type | Hyperactivity, Gait ataxia | OMIM:300486 | |
Purine Nucleoside Phosphorylase Deficiency | Hyperactivity, Ataxia | ORPHA:760 | |
Mucopolysaccharidosis, Type Iiic | Hyperactivity | OMIM:252930 | |
Glass Syndrome | Hyperactivity, Broad-based gait | OMIM:612313 | |
Familial Gestational Hyperthyroidism | Hyperactivity | ORPHA:99819 | |
Symptomatic Form Of Fragile X Syndrome In Female Carriers | Hyperactivity, Attention deficit hyperactivity disorder | ORPHA:449291 | |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor | Hyperactivity | ORPHA:424 | |
Neurodegeneration With Brain Iron Accumulation 1 | Dystonia, Gait disturbance, Bradykinesia, Hyperactivity, Ataxia, Akinesia, Blepharospasm | OMIM:234200 | |
Insensitivity To Pain, Congenital, With Anhidrosis | Hyperactivity | OMIM:256800 | |
Legius Syndrome | Hyperactivity, Dystonia, Attention deficit hyperactivity disorder | ORPHA:137605 | |
Argininemia | Hyperactivity, Spastic gait | OMIM:207800 | |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities | Dysmetria, Hyperactivity, Unsteady gait, Ataxia | OMIM:614756 | |
Choreoacanthocytosis | Lingual dystonia, Loss of ambulation, Oromandibular dystonia, Falls, Bradykinesia, Laryngeal dyst... | ORPHA:2388 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Wnk2tm1e(EUCOMM)Hmgu | Targeted, non-conditional allele | ES Cells |
Wnk2tm1a(EUCOMM)Hmgu | KO first allele (reporter-tagged insertion with conditional potential) | Targeting vectors, ES Cells |
Wnk2em1Murr | Indel | Mice |
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