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Gene: Anks1b MGI:1924781

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Gene Summary

Name:
ankyrin repeat and sterile alpha motif domain containing 1B
Synonyms:
LOC380650,  Gm10937,  AIDA-1b,  E530015N03Rik,  C030032C09Rik

Order Alleles

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.

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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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Lateral Orientation

15 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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Legacy Phenotype Associated Images
Anks1btm1a(KOMP)Wtsi
HOM, Female, WTSI
Anks1btm1a(KOMP)Wtsi
HOM, Female, WTSI
Anks1btm1a(KOMP)Wtsi
HOM, Female, WTSI
Anks1btm1a(KOMP)Wtsi
HOM, Female, WTSI
Anks1btm1a(KOMP)Wtsi
HOM, Female, WTSI

View all 84 images

Anks1btm1a(KOMP)Wtsi
HOM, Male, WTSI
Anks1btm1a(KOMP)Wtsi
HOM, Male, WTSI
Anks1btm1a(KOMP)Wtsi
hippocampal commissure, increased hippocampal commissure size, HOM, Male, WTSI
Anks1btm1a(KOMP)Wtsi
HOM, Male, WTSI
Anks1btm1a(KOMP)Wtsi
HOM, Male, WTSI

View all 9 images

Anks1btm1a(KOMP)Wtsi
persistence of hyaloid vascular system, HOM, Female, WTSI
Anks1btm1a(KOMP)Wtsi
right eye, HOM, Male, WTSI
Anks1btm1a(KOMP)Wtsi
right eye, HOM, Male, WTSI

Human diseases caused by Anks1b 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 Anks1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:209850
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Inflexible a... OMIM:608636
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Abnormal repetitive mannerisms OMIM:606053
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Developmental And Epileptic Encephalopathy 58
Inability to walk, Abnormal repetitive mannerisms OMIM:617830
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617820
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Inappropriate behavior, D... ORPHA:275864
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Abnor... OMIM:600795
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608049
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... OMIM:617695
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Foxg1 Syndrome
Inability to walk, Choreoathetosis, Difficulty walking, Bruxism, Abnormal repetitive mannerisms, ... ORPHA:561854
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... OMIM:614104
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... OMIM:618342
Severe Intellectual Disability And Progressive Spastic Paraplegia
Waddling gait, Abnormal repetitive mannerisms, Difficulty walking ORPHA:280763
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Christianson Syndrome
Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms ORPHA:85278
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia OMIM:619317
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, Gait ataxia, Chore... OMIM:619580
Xq28 (MECP2) duplication
Gait ataxia, Inability to walk, Abnormal repetitive mannerisms, Dysphagia DECIPHER:45
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Motor tics OMIM:619725
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac... OMIM:300986
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Self-injurious behavior, Abnormal temper tantrums, Attention ... ORPHA:449291
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:618430
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620242
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Obsessive-compul... ORPHA:168491
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia OMIM:617807
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Bru... OMIM:300912
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Gait disturbance ORPHA:457240
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive mannerisms, Self-muti... OMIM:123450
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism... ORPHA:778
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Repetitive compulsive behavior, Inability to walk, Bruxism, Dysphagia, Abnormal repetitiv... OMIM:300260
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
Houge-Janssens Syndrome 3
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618354
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior OMIM:618914
48,Xxyy Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:10
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms OMIM:619435
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Abnormal repetitive mannerisms, Ataxia ORPHA:927
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde... OMIM:619312
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 52
Abnormal repetitive mannerisms, Hyperactivity, Obsessive-compulsive trait, Pica OMIM:617796
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Gait ataxia OMIM:300486
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:98784
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Overfriendliness OMIM:619293
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia OMIM:619428
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Cerebral Creatine Deficiency Syndrome 1
Broad-based gait, Aggressive behavior, Gait disturbance, Attention deficit hyperactivity disorder... OMIM:300352
Smith-Magenis Syndrome
Self-injurious behavior, Gait disturbance, Abnormal repetitive mannerisms, Attention deficit hype... ORPHA:819
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:476126
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Tics, Abnormal repeti... OMIM:616364
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Ataxia, Abnormal repetitive mannerisms, Compulsive beha... OMIM:615656
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Childhood Absence Epilepsy
Punding, Attention deficit hyperactivity disorder ORPHA:64280
Phelan-Mcdermid Syndrome
Broad-based gait, Aggressive behavior, Unsteady gait, Tongue thrusting, Bruxism, Abnormal repetit... OMIM:606232
Rett Syndrome, Congenital Variant
Athetosis, Tongue thrusting, Abnormal repetitive mannerisms, Bruxism OMIM:613454
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Abnormal temper tantrums, Abnormal repetitive mannerisms ORPHA:457279
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica... OMIM:212066
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:261197
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical ha... OMIM:619229
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... ORPHA:468678
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Frequent temper ... OMIM:619575
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Self-biting, Choreoathetosis, Abnormal repetitive manneri... ORPHA:522077
Bainbridge-Ropers Syndrome
Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:615485
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Inability to walk, Abnormal repetitive mannerisms ORPHA:300570
Kleefstra Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior ORPHA:261494
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Unsteady gait, Polyphagia, Dysmetria, Self-inj... ORPHA:96121
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Broad-based gait, Ataxia, Impulsivity, Aggressive behavior, ... OMIM:619475
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Wiedemann-Steiner Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia, Aggressive behavior ORPHA:319182
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Self-injurious behavior, Compulsive behaviors, Frequent temper tantrums, Abnormal ... OMIM:619512
Hypotonia, Ataxia, And Delayed Development Syndrome
Broad-based gait, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, Abnormal repetitive ... OMIM:617330
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax... OMIM:614756
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Compulsive behaviors, Dysphagia, Attentio... OMIM:615873
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Abnormal repetitive mannerisms, Choreoathetosis, Dysphagia OMIM:619777
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity OMIM:301030
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:508533
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:464311
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Gait disturbance ORPHA:464306
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Kinsship Syndrome
Abnormal repetitive mannerisms, Bruxism OMIM:619297
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma... ORPHA:580
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Abnorm... ORPHA:513456
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Abnormal repetitive mannerisms, Aggressive behavior OMIM:301066
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Difficulty walking OMIM:618653
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Compulsive behaviors, Abnormal repetitive mannerisms, Attention deficit ... ORPHA:534
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Abnormal repetitive mannerisms OMIM:309590
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Gait imbalance, Dysphagia OMIM:616268
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
Ogden Syndrome
Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Nmda Receptor Encephalitis
Choreoathetosis, Hypersexuality, Agitation, Abnormal repetitive mannerisms ORPHA:217253
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353277
1P36 Deletion Syndrome
Polyphagia, Self-injurious behavior, Gait disturbance, Dysphagia, Abnormal repetitive mannerisms ORPHA:1606
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms OMIM:301044
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyper... OMIM:259050
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Coffin-Siris Syndrome 12
Abnormal repetitive mannerisms OMIM:619325
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms OMIM:194190
Norrie Disease
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:649
Mowat-Wilson Syndrome
Broad-based gait, Ataxia, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Inability to walk, Bruxism, Dysphagia, Abnormal repetitive mannerisms ORPHA:261552

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 Anks1b

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 Anks1b.

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

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Anks1btm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Anks1btm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Anks1btm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Anks1btm1a(KOMP)Wtsi PMC5827107
Initial characterization of behavior and ketamine response in a mouse knockout of the post-synaptic effector gene Anks1b. Neuroscience letters (January 2017) Anks1btm1a(KOMP)Wtsi Anks1btm1b(KOMP)Wtsi PMC5305419

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MGI Allele Allele Type Produced
Anks1btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Anks1btm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Anks1btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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