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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 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 Skull Dorso Ventral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

15 Images

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X-ray

XRay Images Forepaw

14 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
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism ORPHA:356996
Fraxe Intellectual Disability
Hyperactivity, Recurrent hand flapping, Agitation, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Recurrent hand flapping, Agitation, Impulsivity, Stereotypical body rocking OMIM:309548
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Compulsive behavio... ORPHA:352490
Foxg1 Syndrome
Inability to walk, Stereotypical hand wringing, Choreoathetosis, Abnormal repetitive mannerisms, ... ORPHA:561854
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormal repetitive mannerisms, Disinhibition, Restlessness, Collectionism ORPHA:275864
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Severe Intellectual Disability And Progressive Spastic Paraplegia
Difficulty walking, Abnormal repetitive mannerisms, Waddling gait ORPHA:280763
2Q23.1 Microdeletion Syndrome
Ataxia, Hyperactivity, Polyphagia, Abnormal repetitive mannerisms ORPHA:228402
Christianson Syndrome
Truncal ataxia, Gait ataxia, Abnormal repetitive mannerisms, Dysphagia ORPHA:85278
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity, Abnormal repetitive mannerisms ORPHA:530983
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:313892
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Inability to walk, Gait disturbance, Ataxia, Abnormal repetitive mannerisms, Obses... ORPHA:168491
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Alazami Syndrome
Abnormal eating behavior, Abnormal repetitive mannerisms, Stereotypical hand wringing ORPHA:319671
Rett Syndrome
Inability to walk, Stereotypical hand wringing, Gait disturbance, Agitation, Abnormal repetitive ... ORPHA:778
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal repetitive mannerisms ORPHA:391307
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Abnormal repetitive mannerisms, Dysphagia ORPHA:79264
48,Xxyy Syndrome
Ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:10
Bilateral Generalized Polymicrogyria
Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms ORPHA:3306
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Agitation, Ataxia, Abnormal repetitive mannerisms ORPHA:927
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Abnormal repetitive mannerisms ORPHA:457240
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Agitation, Recurrent hand flapping, Gait disturbance, Bruxism OMIM:617903
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Recurrent hand flapping, Attention deficit hyperactivity disorder, Abnormal repeti... ORPHA:449291
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder ORPHA:391372
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors ORPHA:401777
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:98784
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms ORPHA:168782
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Repetitive compulsive behavior, Polyphagia, Agitation OMIM:607485
Cystinosis
Polydipsia, Gait disturbance, Abnormal repetitive mannerisms ORPHA:213
4Q21 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Repetitive compulsive behavior, Ataxia, Dysphagia, Bruxism OMIM:300260
Smith-Magenis Syndrome
Attention deficit hyperactivity disorder, Gait disturbance, Abnormal repetitive mannerisms ORPHA:819
Transketolase Deficiency
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:488618
3P25.3 Microdeletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:435638
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive... ORPHA:476126
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Punding ORPHA:64280
Macrocephaly-Developmental Delay Syndrome
Abnormal repetitive mannerisms ORPHA:397612
Proximal 16P11.2 Microdeletion Syndrome
Choreoathetosis, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:261197
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Megalocornea-Intellectual Disability Syndrome
Ataxia, Abnormal repetitive mannerisms ORPHA:2479
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Unsteady gait, Abnormal repetitive mannerisms ORPHA:457279
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Inability to walk, Spastic ataxia, Abnormal repetitive mannerisms ORPHA:300570
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Ataxia, Abnormal repetitive mannerisms, Dysphagia ORPHA:496641
White-Sutton Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:468678
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:457351
7Q11.23 Microduplication Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Dysmetria, Polyphagia, Unsteady gait, Collectionism ORPHA:96121
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Choreoathetosis, Ataxia, Repetitive compulsive behavior, Abnormal repetitive mannerisms ORPHA:522077
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Head-banging, Abnormal repetitive mannerisms, Compulsiv... ORPHA:177907
Dilated Cardiomyopathy With Ataxia
Repetitive compulsive behavior, Ataxia ORPHA:66634
Wiedemann-Steiner Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:319182
Kleefstra Syndrome
Abnormal repetitive mannerisms ORPHA:261494
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:508533
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Dysphagia ORPHA:447997
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Attention deficit hyperactivity disorder, Gait disturbance, Abnormal repetitive mannerisms ORPHA:464311
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Abnormal repetitive mannerisms ORPHA:464306
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gait ataxia, Repetitive compulsive behavior, Abnormal repetitive mannerisms, Stereotypical body r... ORPHA:513456
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperactivity, Tip-toe gait, Falls, Tics, Repetitive compulsive behavior, Agitation, Ataxia, Impu... OMIM:619475
Mucopolysaccharidosis Type 2
Hyperactivity, Impulsivity, Abnormal repetitive mannerisms ORPHA:580
Oculocerebrorenal Syndrome Of Lowe
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:534
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal repetitive mannerisms ORPHA:468631
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Abnormal repetitive mannerisms ORPHA:508498
Tuberous Sclerosis Complex
Impulsivity, Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Hyperactivity ORPHA:805
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Impulsivity, Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:353281
1P36 Deletion Syndrome
Polyphagia, Gait disturbance, Abnormal repetitive mannerisms, Dysphagia ORPHA:1606
Nmda Receptor Encephalitis
Agitation, Choreoathetosis, Abnormal repetitive mannerisms ORPHA:217253
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Impulsivity, Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Impulsivity, Hyperactivity, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:353277
Norrie Disease
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms ORPHA:649
Mowat-Wilson Syndrome
Inability to walk, Ataxia, Abnormal repetitive mannerisms, Dysphagia, Broad-based gait, Bruxism ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Inability to walk, Abnormal repetitive mannerisms, Dysphagia, Broad-based gait, Bruxism ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Inability to walk, Abnormal repetitive mannerisms, Dysphagia, Broad-based gait, Bruxism 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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