Gene Summary

Name:
WD repeat domain 6
Synonyms:
N/A

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 fasting circulating glucose level Wdr6em1(IMPC)J HOM Early adult 5.82×10-14
hyperactivity Wdr6em1(IMPC)J HOM Early adult 1.10×10-06
improved glucose tolerance Wdr6em1(IMPC)J HOM Early adult 1.41×10-07
abnormal auditory brainstem response Wdr6em1(IMPC)J HOM   Early adult 1.58×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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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.

Eye Morphology

Images Slit Lamp

2 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

Human diseases caused by Wdr6 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 Wdr6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 14
Maturity-onset diabetes of the young, Diabetes mellitus OMIM:616511
Type 1 Diabetes Mellitus 2
Diabetes mellitus, Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 15
Diabetes mellitus, Type I diabetes mellitus OMIM:601666
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder, EEG with centrotemporal focal spike waves OMIM:245570
Wolfram-Like Syndrome, Autosomal Dominant
Glucose intolerance, Impaired glucose tolerance, Hearing impairment, Diabetes mellitus, Optic atr... OMIM:614296
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Immunodeficiency 8
Hyperactivity OMIM:615401
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
EEG abnormality, Hyperactivity ORPHA:436151
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit... ORPHA:35878
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia, Glucose intolerance OMIM:147630
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Autosomal Recessive Spastic Paraplegia Type 44
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked potentials... ORPHA:320401
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Ravine Syndrome
Abnormal auditory evoked potentials, Ataxia ORPHA:99852
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Macrotia OMIM:300928
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Ataxia, Optic disc pallor OMIM:618970
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Insulin-Like Growth Factor I Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:608747
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Glucose intolerance, Postural hypotension with compensatory tachycardia, Abnorm... ORPHA:369873
Diabetes Mellitus, Permanent Neonatal, 3
Athetosis, Glycosuria, Interictal epileptiform activity, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... OMIM:125250
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hearing impairment, Dia... ORPHA:99886
Charcot-Marie-Tooth Disease, Type 4D
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... OMIM:601455
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Sensorineural hearing im... ORPHA:1215
Mohr-Tranebjaerg Syndrome
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem auditory ... ORPHA:52368
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Macrotia OMIM:301013
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Hyperglycemia, Sensorineural hearing impairment, Type II diabetes mellitus OMIM:520000
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia OMIM:618856
Hyperprolinemia, Type I
EEG abnormality, Ataxia, Hyperactivity OMIM:239500
Aminoacylase 1 Deficiency
Sensorineural hearing impairment, Hyperactivity OMIM:609924
Sotos Syndrome 3
Hyperactivity OMIM:617169
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy OMIM:617519
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... OMIM:601596
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, EEG abnormality, Falls, Hyperactivity ORPHA:2382
Mannosidosis, Beta A, Lysosomal
Hearing impairment, Hyperactivity OMIM:248510
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Abnormality of the pinna, Ataxia, Hyperactivity OMIM:300983
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus OMIM:606176
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, EEG with focal epileptiform discharges, Hypsarrhythmia, Multifocal epileptiform dischar... ORPHA:88616
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Landau-Kleffner Syndrome
EEG with frontal focal spikes, EEG with temporal focal spikes, Interictal EEG abnormality, Gait a... ORPHA:98818
Optic Atrophy 11
Facial diplegia, Macrotia, Ataxia, Hearing impairment, Dysmetria, Hyperactivity, Optic atrophy OMIM:617302
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Lethargy, Hyperactivity OMIM:274270
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, D... ORPHA:206443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Fasting hypoglycemia, Hyperinsulinemia, Postprandial hyperglycemia, Hypoglycemia, Insulin-resista... OMIM:262190
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Cln5 Disease
Dysdiadochokinesis, Inability to walk, EEG with spike-wave complexes, Truncal ataxia, EEG with ge... ORPHA:228360
Fraxe Intellectual Disability
Prominent ear helix, Hyperactivity ORPHA:100973
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Mental Retardation, Autosomal Recessive 39
Hyperactivity, Macrotia OMIM:615541
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
Chromosome 3Q29 Deletion Syndrome
Posteriorly rotated ears, Gait ataxia, Hyperactivity, Macrotia OMIM:609425
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, EEG with focal epileptiform discharges, Interictal epileptiform ... ORPHA:1929
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketotic hypoglycemia, Postprandial hyperglycemia, Lethargy, Glycosuria ORPHA:2089
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Mental Retardation, Autosomal Recessive 61
Posteriorly rotated ears, EEG abnormality, Hyperactivity OMIM:617773
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, EEG abnormality, Ataxia, Hyperactivity ORPHA:411515
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia, Sensorineural hearing impairment, Bilateral sensorineural heari... ORPHA:73272
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Sensorineural hearing impairment, Hyperactivity OMIM:618342
Myoclonic-Astatic Epilepsy
EEG with generalized slow activity, EEG with polyspike wave complexes, Interictal epileptiform ac... ORPHA:1942
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Insulin resistance, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Gait disturbance, Ataxia, EEG abnormality, Broad-... ORPHA:206448
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Conductive hearing impairment OMIM:201050
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, EEG abnormality, Hyperactivity OMIM:618718
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Intellectual Developmental Disorder, X-Linked 30
Hyperactivity, Macrotia OMIM:300558
Charcot-Marie-Tooth Disease Type 1F
Inability to walk, Gait ataxia, Limb ataxia, Absent brainstem auditory responses, Sensorineural h... ORPHA:101085
Succinic Semialdehyde Dehydrogenase Deficiency
EEG abnormality, Ataxia, Hyperactivity OMIM:271980
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, EEG abnormality, Hyperactivity ORPHA:500180
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Focal EEG discharges with secondary generalization, Shuffling gait, Hyperactivity ORPHA:3077
Adult-Onset Autosomal Dominant Leukodystrophy
Dysdiadochokinesis, Gait ataxia, Autonomic bladder dysfunction, Orthostatic hypotension, Gait dis... ORPHA:99027
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hearing impairment, Broad-based gait, Hyperactivity ORPHA:457260
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity, EEG with burst suppression, Hypsarrhythmia OMIM:619239
Coffin-Siris Syndrome 7
Posteriorly rotated ears, Hearing impairment, Hyperactivity, Macrotia OMIM:618027
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Macrotia OMIM:618504
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Ataxia, Optic disc pallor OMIM:619260
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, EEG with spike-wave complexes, EEG with series of focal spikes, EEG with photo... ORPHA:168491
Phenylketonuria
Attention deficit hyperactivity disorder, Hyperactivity OMIM:261600
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Rubinstein-Taybi Syndrome 2
Posterior helix pit, Hyperactivity OMIM:613684
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Macrotia, Ataxia, Hypsarrhythmia OMIM:300912
Acrodysostosis 2 With Or Without Hormone Resistance
Diabetes mellitus, Hyperactivity OMIM:614613
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:382
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Unsteady gait, Broad-based gait, Hyperactivity OMIM:617865
Infantile Neuroaxonal Dystrophy
Dystonia, Gait disturbance, Abnormal autonomic nervous system physiology, Ataxia, Unsteady gait, ... ORPHA:35069
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Hearing impairment, Optic atrophy, Hyperactivity ORPHA:369939
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypoplasia of the semicircular canal, Abnormal autonomic nervous system physiology, Long-segment ... OMIM:609136
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hearing impairment, Broad-based gait, Hyperactivity OMIM:300958
Clcn4-Related X-Linked Intellectual Disability Syndrome
Progressive cerebellar ataxia, EEG with focal spikes, Unsteady gait, Hyperactivity ORPHA:485350
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Cockayne Syndrome Type 1
Macrotia, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Absent brainstem audi... ORPHA:90321
Fragile X Syndrome
Hyperactivity, Macrotia OMIM:300624
Mental Retardation, Autosomal Recessive 38
Unsteady gait, Hyperactivity OMIM:615516
Intellectual Developmental Disorder, X-Linked 21
Uplifted earlobe, Hyperactivity OMIM:300143
Mental Retardation, Autosomal Dominant 7
Thickened helices, Macrotia, Gait disturbance, Abnormality of the pinna, Ataxia, Hyperactivity OMIM:614104
Cerebrotendinous Xanthomatosis
Dystonia, Gait disturbance, Abnormal motor evoked potentials, Ataxia, Abnormal auditory evoked po... ORPHA:909
X-Linked Creatine Transporter Deficiency
Dystonia, Aganglionic megacolon, Ataxia, Hyperactivity, Athetosis ORPHA:52503
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Sensorineural hearing impairment ORPHA:529799
Pitt-Hopkins-Like Syndrome 1
EEG abnormality, Ataxia, Hyperactivity OMIM:610042
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses ORPHA:3240
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Posteriorly rotated ears, Microtia, Hyperactivity OMIM:618089
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Insulin-Resistance Syndrome Type B
Abnormal oral glucose tolerance, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyperinsuli... ORPHA:2298
Lamb-Shaffer Syndrome
Optic atrophy, Ataxia, Hyperactivity ORPHA:530983
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Hyperactivity, Diabetes mellitus, Attention deficit hyperactivity disorder, Macrotia ORPHA:449291
Infantile Krabbe Disease
Hearing impairment, Prolonged brainstem auditory evoked potentials, Optic atrophy, Decreased nerv... ORPHA:206436
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, EEG abnormality, EEG with abnormally slow frequencies, Hyperactivity, Gait imbalance, Bro... ORPHA:98794
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Potocki-Lupski Syndrome
Hearing impairment, EEG abnormality, Hyperactivity OMIM:610883
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Macrotia, Ataxia, Multifocal epileptiform discharges, Hearing impairment, EEG abnormality, Hypera... ORPHA:369891
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Gait disturbance, Neonatal hypoglycemia, Hyperactivity ORPHA:457485
Mucopolysaccharidosis, Type Iiia
Hearing impairment, Hyperactivity OMIM:252900
X-Linked Adrenoleukodystrophy
Gait disturbance, Progressive hearing impairment, Attention deficit hyperactivity disorder, Hyper... ORPHA:43
Cockayne Syndrome A
Gait disturbance, Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, Sensorin... OMIM:216400
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity ORPHA:101039
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Bradykinesia, Dysmetria, Hyperactivity, Optic atrophy OMIM:610217
Trisomy 10P
Low voltage EEG, Macrotia, EEG with burst suppression, Posteriorly rotated ears, Abnormal auditor... ORPHA:171929
Spastic Paraplegia 29, Autosomal Dominant
Sensorineural hearing impairment, Hyperactivity OMIM:609727
Angelman Syndrome
Progressive gait ataxia, EEG abnormality, Broad-based gait, Hyperactivity OMIM:105830
13Q12.3 Microdeletion Syndrome
Hearing impairment, Hyperactivity ORPHA:412035
Mucopolysaccharidosis, Type Iiib
Hearing impairment, Hyperactivity OMIM:252920
Cockayne Syndrome B
Abnormality of the pinna, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impa... OMIM:133540
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Macrotia ORPHA:391307
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Difficulty walking, Gait disturbance, Ataxia, Hearing impairment, Dysmetria, H... ORPHA:139396
Mend Syndrome
Abnormal auditory evoked potentials, Hyperactivity ORPHA:401973
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Histidinemia
Hyperactivity ORPHA:2157
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Macrotia OMIM:300486
Mucopolysaccharidosis, Type Iiic
Hearing impairment, Hyperactivity OMIM:252930
Purine Nucleoside Phosphorylase Deficiency
Sensorineural hearing impairment, Ataxia, Hyperactivity ORPHA:760
Insensitivity To Pain, Congenital, With Anhidrosis
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology,... OMIM:256800
Stankiewicz-Isidor Syndrome
Hyperactivity, Hearing impairment, Abnormality of the optic disc OMIM:617516
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Hyperlysinemia
EEG with spike-wave complexes, Hypoplastic helices, Hypoplasia of the antihelix, Dysmetria, Hyper... ORPHA:2203
Early Infantile Epileptic Encephalopathy
Dystonia, Uni- and bilateral multifocal epileptiform discharges, EEG with spike-wave complexes, E... ORPHA:1934
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia, Hyperactivity, Optic a... OMIM:234200
Brooks-Wisniewski-Brown syndrome
Posteriorly rotated ears, Cupped ear, Protruding ear, EEG abnormality, Hyperactivity, Optic atrophy OMIM:300612
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Ataxia, Unsteady gait, Protruding ear, Dysmetria, Hyperactivity, Short ear OMIM:614756
Familial Gestational Hyperthyroidism
Hyperactivity ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity ORPHA:424
Argininemia
Spastic gait, Hyperactivity OMIM:207800
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Blepharospasm, Abnormal autonomic nervous syste... ORPHA:2388
Acrodysostosis With Multiple Hormone Resistance
Diabetes mellitus, Hyperactivity ORPHA:280651
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Protruding ear, Hypsarrhythmia ORPHA:447997

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 Wdr6

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 Wdr6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis. Communications biology (May 2021) Wdr62tm3a(EUCOMM)Hmgu PMC8167107

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MGI Allele Allele Type Produced
Wdr6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Wdr6em1(IMPC)J Intra-exon deletion Mice
Wdr6tm462704(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) Targeting vectors

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