Gene Summary

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

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.

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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 Dorso Ventral

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

X-ray

XRay Images Forepaw

14 Images

Legacy Phenotype Associated Images

View all 84 images

View all 9 images

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 Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:617787
Primary Dystonia, Dyt13 Type
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... ORPHA:98807
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Mental Retardation, Autosomal Dominant 45
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617600
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Stereotypy OMIM:300271
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Smith-Magenis syndrome
Hyperactivity, Stereotypy DECIPHER:8
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Hyperactivity, Babinski sign, Inability to walk, Spastic tetraplegia OMIM:616657
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Stereotypy OMIM:606053
Immunodeficiency 8
Hyperactivity OMIM:615401
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia OMIM:617113
Gilles De La Tourette Syndrome
Attention deficit hyperactivity disorder, Phonic tics, Motor tics OMIM:137580
Mental Retardation, Autosomal Recessive 37
Hyperactivity, Spasticity OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Spasticity ORPHA:356996
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Attention deficit hyperactivity disorder, Stereotypy OMIM:618709
Asperger Syndrome, X-Linked, Susceptibility To, 2
Stereotypy OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Stereotypy OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Stereotypy OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Stereotypy OMIM:608631
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... OMIM:615924
Developmental And Epileptic Encephalopathy 97
Tremor, Inability to walk, Stereotypical hand wringing OMIM:619561
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk OMIM:618090
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Stereotypical body rocking, Recurrent hand flapping, Poor coordination OMIM:309548
N-Acetylaspartate Deficiency
Unsteady gait, Truncal ataxia, Stereotypy OMIM:614063
Fraxe Intellectual Disability
Clumsiness, Stereotypical body rocking, Recurrent hand flapping, Hyperactivity ORPHA:100973
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Developmental And Epileptic Encephalopathy 58
Inability to walk, Spastic diplegia, Stereotypy OMIM:617830
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Poor coordination, Paroxysmal dyskinesia, Chorea, Falls, Stereotypy, Ataxia OMIM:619150
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait OMIM:619470
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Stereotypy OMIM:239500
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Baker-Gordon Syndrome
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... OMIM:618218
Autism, Susceptibility To, X-Linked 3
Stereotypy OMIM:300496
Autism, Susceptibility To, 8
Stereotypy OMIM:607373
Autism, Susceptibility To, X-Linked 1
Stereotypy OMIM:300425
Autism
Stereotypy OMIM:209850
Chromosome 15Q11-Q13 Duplication Syndrome
Stereotypy OMIM:608636
Intellectual Developmental Disorder, Autosomal Recessive 58
Stereotypy, Spastic diplegia, Choreoathetosis OMIM:617270
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Difficulty walking, Spasticity, Stereotypy OMIM:617393
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Dystonia, Chorea, Inability to walk, Stereotypical hand wringing OMIM:618760
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Poor fine motor coordination OMIM:617182
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Stereotypy OMIM:615541
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... OMIM:617384
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity OMIM:612716
Juvenile Huntington Disease
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Hyper... ORPHA:248111
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Spastic tetraparesis, Hyperactivity, Hypertonia, Hemiparesis OMIM:604317
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Gait disturbance, Babinski sign, Dystonia, Rigidity, Myoclonus, Stereotypy OMIM:600795
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Dystonia, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing, Spasticity, Gait at... OMIM:618917
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Gait ataxia, Stereotypy OMIM:609425
Atypical Rett Syndrome
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Tongue thrusting, Tremor, Loss... ORPHA:3095
Autosomal Recessive Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Hyperactivity, Spasticity ORPHA:88616
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Hypertonia, Spastic tetraplegia, Stereotypy OMIM:615282
Severe Intellectual Disability And Progressive Spastic Paraplegia
Babinski sign, Dystonia, Spastic dysarthria, Stereotypy, Waddling gait, Difficulty walking, Spast... ORPHA:280763
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Stereotypy, Tremor, Hyperactivity, Inability to walk, Spasticity OMIM:618718
Mental Retardation With Language Impairment And With Or Without Autistic Features
Attention deficit hyperactivity disorder, Speech apraxia, Stereotypy OMIM:613670
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity, Spasticity OMIM:300983
Intellectual Developmental Disorder, Autosomal Recessive 74
Hyperactivity OMIM:617169
Glycine Encephalopathy
Hyperactivity, Myoclonus, Lethargy OMIM:605899
Foxg1 Syndrome
Dystonia, Choreoathetosis, Myoclonus, Stereotypy, Inability to walk, Stereotypical hand wringing,... ORPHA:561854
Developmental And Epileptic Encephalopathy 6B
Dystonia, Choreoathetosis, Chorea, Myoclonus, Stereotypy, Ataxia, Inability to walk, Hyperkinetic... OMIM:619317
Pontocerebellar Hypoplasia, Type 11
Poor coordination, Stereotypy, Ataxia, Inability to walk, Spasticity, Broad-based gait, Limb atax... OMIM:617695
Dihydropyrimidine Dehydrogenase Deficiency
Tetraplegia, Hyperactivity, Hypertonia, Lethargy OMIM:274270
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Stereotypy, Repetitive compulsive behavior, Hyperactivity, Hypertonia, Spasticity... ORPHA:352490
Developmental And Epileptic Encephalopathy 30
Stereotypy OMIM:616341
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Attention deficit hyperactivity disorder, Spastic ataxia, Stereotypy OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 71
Hyperactivity, Attention deficit hyperactivity disorder, Stereotypy OMIM:618504
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Stereotypical hand wringing, Hyperkinetic movements ORPHA:397933
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Stereotypical hand wringing, Spasticity ORPHA:500545
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonus, Stereotypy, Tremor, Ataxia, Hypertonia, Gait ataxia OMIM:619092
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Dystonia, Limb hypertonia, Chorea, Abnormality of extrapyramidal motor function, Hyperactivity, I... ORPHA:500180
Guanidinoacetate Methyltransferase Deficiency
Athetosis, Dystonia, Progressive extrapyramidal movement disorder, Chorea, Abnormality of extrapy... ORPHA:382
Short Stature, Developmental Delay, And Congenital Heart Defects
Attention deficit hyperactivity disorder, Stereotypy OMIM:617044
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Stereotypy, Upper... ORPHA:275864
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Broad-based gait, Stereotypy OMIM:301029
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Lower limb spasticity, Tremor, Hyperactivity, Resting tremor, Broad-based gait, P... ORPHA:3077
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Babinski sign, Spasticity, Stereotypy OMIM:612069
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301008
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Cln5 Disease
Clumsiness, Poor gross motor coordination, Dysmetria, Tremor, Ataxia, Hyperactivity, Dysdiadochok... ORPHA:228360
Snijders Blok-Campeau Syndrome
Unsteady gait, Broad-based gait, Speech apraxia, Stereotypy OMIM:618205
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Mental Retardation, Autosomal Recessive 41
Stereotypy OMIM:615637
Lennox-Gastaut Syndrome
Hyperactivity, Myoclonus, Falls ORPHA:2382
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Autism, Susceptibility To, X-Linked 2
Stereotypy OMIM:300495
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abno... ORPHA:363400
Intellectual Developmental Disorder, Autosomal Recessive 38
Unsteady gait, Hyperactivity, Recurrent hand flapping OMIM:615516
Obesity, Hyperphagia, And Developmental Delay
Stereotypy OMIM:613886
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity OMIM:619031
Mental Retardation, Autosomal Dominant 7
Gait disturbance, Stereotypy, Ataxia, Hyperactivity, Stereotypical hand wringing, Incoordination OMIM:614104
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity, Hyperkinetic movements OMIM:617302
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Tics, Hypertonia, Broad-based gait, Unsteady gait OMIM:617865
Gand Syndrome
Hyperactivity, Tics OMIM:615074
Bilateral Generalized Polymicrogyria
Dystonia, Paroxysmal dyskinesia, Spastic tetraplegia, Stereotypy, Eyelid myoclonus, Spasticity, O... ORPHA:208447
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Cdkl5-Deficiency Disorder
Gait disturbance, Stereotypical hand wringing, Difficulty walking ORPHA:505652
Mental Retardation, Autosomal Recessive 61
Hyperactivity, Babinski sign, Spasticity OMIM:617773
Morm Syndrome
Hyperactivity ORPHA:75858
Syngap1-Related Developmental And Epileptic Encephalopathy
Gait disturbance, Poor coordination, Tremor, Ataxia, Recurrent hand flapping ORPHA:544254
Developmental And Epileptic Encephalopathy 26
Stereotypical hand wringing OMIM:616056
Rett Syndrome
Gait disturbance, Dystonia, Limb apraxia, Bradykinesia, Stereotypy, Inability to walk, Stereotypi... ORPHA:778
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Spasticity, Stereotypy OMIM:610042
Christianson Syndrome
Dystonia, Gait ataxia, Truncal ataxia, Stereotypy ORPHA:85278
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Stereotypy, Spasticity, Unsteady gait, Gait ataxia, Difficulty walking OMIM:617807
Xq28 (MECP2) duplication
Progressive spasticity, Inability to walk, Gait ataxia, Stereotypy DECIPHER:45
Aromatic L-Amino Acid Decarboxylase Deficiency
Athetosis, Babinski sign, Limb hypertonia, Choreoathetosis, Torticollis, Myoclonus, Tongue thrust... OMIM:608643
Spastic Paraplegia 29, Autosomal Dominant
Babinski sign, Clonus, Upper limb spasticity, Lower limb spasticity, Hyperactivity, Spastic parap... OMIM:609727
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Recurrent hand flapping, Spasticity OMIM:618859
Landau-Kleffner Syndrome
Frequent falls, Steppage gait, Speech apraxia, Hyperactivity, Slurred speech, Attention deficit h... ORPHA:98818
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Upper motor neuron dysfunction, Stereotypy ORPHA:530983
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Gait disturbance, Upper limb spasticity, Stereotypy, Tremor, Hyperkinetic movements ORPHA:457240
Juvenile Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonic spasms, Poor motor coordination, Stereotypy, Loss of ability to walk, Poor ... ORPHA:79264
Leber Congenital Amaurosis 2
Eye poking OMIM:204100
Autosomal Dominant Non-Syndromic Intellectual Disability
Dystonia, Chorea, Stereotypy, Eyelid myoclonus, Spasticity, Oculogyric crisis ORPHA:178469
Mental Retardation, Autosomal Dominant 43
Hyperactivity OMIM:616977
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy, Attention deficit h... OMIM:619580
Pick Disease Of Brain
Stereotypy OMIM:172700
Myopathy With Extrapyramidal Signs
Clumsiness, Dystonia, Clonus, Frequent falls, Choreoathetosis, Chorea, Abnormality of extrapyrami... OMIM:615673
Xq25 Microduplication Syndrome
Hyperactivity ORPHA:521258
Chromosome Xq25 Duplication Syndrome
Hyperactivity OMIM:300979
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Chorea, Myoclonus, Lower limb spasticity, Progressive cerebellar ataxia, H... ORPHA:485350
Coffin-Siris Syndrome 6
Tics, Attention deficit hyperactivity disorder, Stereotypy OMIM:617808
Late Infantile Neuronal Ceroid Lipofuscinosis
Gait disturbance, Myoclonus, Cortical myoclonus, Stereotypy, Ataxia, Hyperactivity, Inability to ... ORPHA:168491
Neurodegeneration With Brain Iron Accumulation 2B
Babinski sign, Dystonia, Dysmetria, Chorea, Bradykinesia, Intention tremor, Hyperactivity, Hypert... OMIM:610217
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Paroxysmal dystonia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:98784
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus, Stereotypy ORPHA:411986
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Broad-based gait, Spasticity ORPHA:457260
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Stereotypy ORPHA:228402
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Ataxia, Hyperkinetic movements OMIM:271980
Rasmussen Subacute Encephalitis
Involuntary movements, Hemidystonia, Hemiparesis, Hyperactivity, Inability to walk, Attention def... ORPHA:1929
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Babinski sign, Scissor gait, Dysmetria, Spastic gait, Spastic tetraplegia, Stereotypy, Truncal at... OMIM:619121
X-Linked Adrenoleukodystrophy
Clumsiness, Paralysis, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... ORPHA:43
X-Linked Intellectual Disability, Cantagrel Type
Tetraparesis, Stereotypy ORPHA:85277
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Ataxia, Broad-based gait ORPHA:411515
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Gait imbalance, Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Broad-based gait, Rec... ORPHA:98794
X-Linked Cerebral Adrenoleukodystrophy
Gait disturbance, Hoffmann sign, Limb myoclonus, Dysmetria, Lower limb spasticity, Hemiparesis, S... ORPHA:139396
Leber Congenital Amaurosis 1
Eye poking OMIM:204000
X-Linked Creatine Transporter Deficiency
Athetosis, Dystonia, Chorea, Ataxia, Hypertonia, Hyperactivity ORPHA:52503
48,Xxyy Syndrome
Tremor, Ataxia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:10
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Paraplegia, Ataxia, Lethargy, Stereotypy ORPHA:927
Developmental And Epileptic Encephalopathy 87
Recurrent hand flapping, Hypertonia OMIM:618916
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Stereotypy ORPHA:391307
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Gait disturbance, Stereotypy, Attention deficit hyperactivity disorder, Ataxia, Hypertonia, Recur... OMIM:300986
Phenylketonuria
Hyperactivity, Attention deficit hyperactivity disorder OMIM:261600
Developmental And Speech Delay Due To Sox5 Deficiency
Attention deficit hyperactivity disorder, Stereotypy ORPHA:313892
Intellectual Disability, Birk-Barel Type
Fatiguable weakness of proximal limb muscles, Hyperactivity, Fatigable weakness of skeletal muscl... ORPHA:166108
Mental Retardation, Autosomal Dominant 40
Gait ataxia, Stereotypy OMIM:616579
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Repetitive compulsive behavior, Oromotor apraxia, Attention deficit hyperactivity disorder, Spast... ORPHA:391372
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Spasticity OMIM:615286
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Stereotypy ORPHA:3306
Neurodegeneration With Brain Iron Accumulation 1
Parkinsonism, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Eyelid apraxia, Abnormality ... OMIM:234200
Myoclonic-Astatic Epilepsy
Tremor, Hyperactivity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Attention deficit hyperact... ORPHA:1942
Cerebral Creatine Deficiency Syndrome 1
Gait disturbance, Dystonia, Poor hand-eye coordination, Stereotypy, Spasticity, Attention deficit... OMIM:300352
Smith-Magenis Syndrome
Hyperactivity, Stereotypy OMIM:182290
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Recurrent hand flapping OMIM:617268
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Gait disturbance, Dystonia, Spastic tetraparesis, Ataxia, Hyperactivity, ... ORPHA:35069
Usmani-Riazuddin Syndrome, Autosomal Dominant
Hyperactivity, Spasticity OMIM:619467
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Progressive spasticity, Rigidity, Chorea, Lower limb spasticity, Stereotypy, Repetitive compulsiv... OMIM:300260
Potocki-Lupski Syndrome
Hyperactivity, Stereotypy OMIM:610883
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Tetraplegia, Abnormal pyramidal sign, Hyperactivity ORPHA:369939
Autism, Susceptibility To, 3
Stereotypy OMIM:608049
Purine Nucleoside Phosphorylase Deficiency
Cerebral palsy, Ataxia, Hypertonia, Hyperactivity, Spasticity, Abnormal central motor function, S... ORPHA:760
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Spasticity, Stereotypy OMIM:300486
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Broad-based gait, Spasticity OMIM:300958
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Choreoathetosis, Paroxysmal dyskinesia, Speech apraxia, Stereotypy, Attention deficit h... ORPHA:261197
4Q21 Microdeletion Syndrome
Tremor, Stereotypy ORPHA:238750
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Attention deficit hyperactivity disorder, Hyperactivity, Recurrent hand flapping, Stereotypy ORPHA:449291
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Myoclonus, Stereotypical hand wringing ORPHA:289266
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Stereotypy OMIM:616351
Microphthalmia-Brain Atrophy Syndrome
Tongue thrusting, Spasticity ORPHA:77299
Angelman Syndrome Due To A Point Mutation
Gait imbalance, Tongue thrusting, Ataxia, Broad-based gait, Recurrent hand flapping ORPHA:411511
Intellectual Developmental Disorder, X-Linked 30
Clumsiness, Hyperactivity OMIM:300558
Rett Syndrome, Congenital Variant
Athetosis, Dystonia, Chorea, Tongue thrusting, Stereotypy, Apraxia, Spasticity OMIM:613454
Radio-Tartaglia Syndrome
Gait imbalance, Stereotypy, Tremor, Ataxia, Attention deficit hyperactivity disorder OMIM:619312
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Cri-Du-Chat Syndrome
Hyperactivity, Hypertonia, Difficulty walking, Stereotypy OMIM:123450
Intellectual Developmental Disorder, X-Linked 98
Lower limb spasticity, Stereotypy, Stereotypical body rocking, Ataxia, Hyperactivity, Stereotypic... OMIM:300912
5Q14.3 Microdeletion Syndrome
Stereotypy ORPHA:228384
Mental Retardation, Autosomal Dominant 48
Stereotypy OMIM:617751
Blepharophimosis-Impaired Intellectual Development Syndrome
Attention deficit hyperactivity disorder, Stereotypy OMIM:619293
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Head tremor, Ataxia, Stereotypy OMIM:619428
Childhood Absence Epilepsy
Attention deficit hyperactivity disorder, Limb myoclonus, Punding ORPHA:64280
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder OMIM:301013
Mend Syndrome
Hyperactivity, Hypertonia OMIM:300960
Optic Atrophy-Intellectual Disability Syndrome
Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Spasticity ORPHA:401777
Childhood Disintegrative Disorder
Stereotypy ORPHA:168782
Adenylosuccinase Deficiency
Opisthotonus, Myoclonus, Hyperactivity, Inability to walk, Spasticity, Gait ataxia OMIM:103050
Alazami Syndrome
Stereotypical hand wringing, Stereotypy ORPHA:319671
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Stereotypy OMIM:615873
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Stereotypy ORPHA:1727
Niemann-Pick Disease, Type C2
Dystonia, Cataplexy, Stereotypy, Ataxia, Spasticity OMIM:607625
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Dystonia, Torticollis, Spastic tetraplegia, Spastic ataxia, Stereotypy, Oculomotor apraxia, Spast... ORPHA:300570
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Speech apraxia, Stereotypy ORPHA:529965
Brain-Lung-Thyroid Syndrome
Clumsiness, Involuntary movements, Dystonia, Choreoathetosis, Chorea, Myoclonus, Falls, Intention... ORPHA:209905
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Dystonia, Choreoathetosis, Chorea, Stereotypy, Repetitive compulsive behavior, Ataxia, Hyperkinet... ORPHA:522077
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Attention deficit hyperactivity disorder OMIM:614294
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebral palsy, Lower limb spasticity, Ataxia, Hyperactivity, Stereotypical hand wringing ORPHA:163681
Cystinosis
Abnormal pyramidal sign, Gait disturbance, Stereotypy ORPHA:213
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Progressive spasticity, Dystonia, Cataplexy, Fasciculations, Stereotypy, Tetraplegia, Ataxia, Spa... ORPHA:496641
Kohlschutter-Tonz Syndrome-Like
Upper limb spasticity, Myoclonus, Lower limb spasticity, Stereotypy, Tremor, Ataxia, Inability to... OMIM:619229
3P25.3 Microdeletion Syndrome
Ataxia, Attention deficit hyperactivity disorder, Stereotypy ORPHA:435638
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Gait imbalance, Broad-based gait ORPHA:98795
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Stereotypy OMIM:618825
Distal Xq28 Microduplication Syndrome
Stereotypical body rocking, Attention deficit hyperactivity disorder, Tip-toe gait ORPHA:293939
Hydroxykynureninuria
Hypertonia, Stereotypy ORPHA:79155
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Cerebral palsy, Hypertonia, Stereotypy OMIM:618914
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Hyperactivity OMIM:615824
Smith-Magenis Syndrome
Gait disturbance, Attention deficit hyperactivity disorder, Stereotypy ORPHA:819
Intellectual Developmental Disorder, X-Linked 21
Hyperactivity OMIM:300143
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Spasticity, Poor coordination OMIM:618430
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:619103
Angelman Syndrome
Myoclonus, Tongue thrusting, Tremor, Ataxia, Hyperactivity, Inability to walk, Broad-based gait, ... ORPHA:72
Graves Disease, Susceptibility To, 1
Hyperactivity OMIM:275000
Ritscher-Schinzel Syndrome 4
Athetosis, Chorea, Ataxia, Stereotypy OMIM:619435
Chromosome 5P13 Duplication Syndrome
Stereotypy OMIM:613174
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Stereotypy ORPHA:500159
Macrocephaly-Developmental Delay Syndrome
Stereotypy ORPHA:397612
Dilated Cardiomyopathy With Ataxia
Dystonia, Lower limb spasticity, Repetitive compulsive behavior, Ataxia, Action tremor ORPHA:66634
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Limb hypertonia, Stereotypy, Inability to walk, Spasticity, Limb dystonia ORPHA:457351
Angelman Syndrome
Clumsiness, Limb tremor, Progressive gait ataxia, Hyperactivity, Broad-based gait OMIM:105830
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Attention deficit hyperactivity disorder, Gait ataxia, Stereotypy ORPHA:476126
Transketolase Deficiency
Attention deficit hyperactivity disorder, Stereotypy ORPHA:488618
Hyperlysinemia
Clumsiness, Opisthotonus, Poor motor coordination, Dysmetria, Tremor, Neck hypertonia, Spastic di... ORPHA:2203
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Clonus, Myoclonic spasms, Lower limb spasticity, Stereotypy, Hyperactivity, Hypertonia ORPHA:447997
Bainbridge-Ropers Syndrome
Inability to walk, Recurrent hand flapping, Hypertonia ORPHA:352577
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus, Stereotypy OMIM:300672
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Stereotypy ORPHA:1001
Phelan-Mcdermid Syndrome
Unsteady gait, Tongue thrusting, Broad-based gait, Stereotypy OMIM:606232
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Babinski sign, Shuffling gait, Hyperactivity, Lower limb hypertonia, Spasticity, Progressive spas... OMIM:300534
Megalocornea-Intellectual Disability Syndrome
Ataxia, Stereotypy ORPHA:2479
Foxg1 Syndrome Due To 14Q12 Microdeletion
Stereotypy ORPHA:261144
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Unsteady gait, Ataxia, Stereotypy ORPHA:457279
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Congenital Disorder Of Glycosylation, Type Iia
Unsteady gait, Hypertonia, Stereotypy OMIM:212066
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Bainbridge-Ropers Syndrome
Inability to walk, Recurrent hand flapping, Hypertonia, Stereotypy OMIM:615485
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity ORPHA:85327
Familial Gestational Hyperthyroidism
Hyperactivity, Hand tremor ORPHA:99819
Limbic Encephalitis With Nmda Receptor Antibodies
Involuntary movements, Dystonia, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Ster... ORPHA:217253
Choreoacanthocytosis
Oromandibular dystonia, Phonic tics, Lingual dystonia, Loss of ambulation, Bradykinesia, Hyperton... ORPHA:2388
Argininemia
Frequent falls, Spastic gait, Hyperactivity, Progressive spastic quadriplegia, Spastic paraparesis OMIM:207800
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Babinski sign, Hypertonia, Spasticity, Stereotypy OMIM:615802
White-Sutton Syndrome
Hyperactivity, Incoordination, Stereotypy ORPHA:468678
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Cerebral palsy, Torticollis, Isometric tremor, Stereotypy, Clonus, Spastic tetraplegia, Intention... OMIM:619475
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hand tremor ORPHA:424
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Parkinsonism, Apraxia OMIM:607485
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Stereotypical body rocking, Tongue thrusting ORPHA:261323
7Q11.23 Microduplication Syndrome
Dysmetria, Hyperactivity, Unsteady gait, Stereotypy ORPHA:96121
Kleefstra Syndrome 1
Stereotypy OMIM:610253
Citrullinemia Type Ii
Tremor, Hyperactivity, Lethargy ORPHA:247585
Microcephaly 26, Primary, Autosomal Dominant
Spastic tetraparesis, Stereotypical hand wringing OMIM:619179
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Inability to walk, Hypertonia, Opisthotonus, Stereotypy ORPHA:508533
Histidinemia
Hyperactivity ORPHA:2157
Hypotonia, Ataxia, And Delayed Development Syndrome
Dysmetria, Speech apraxia, Stereotypy, Ataxia, Truncal ataxia, Broad-based gait, Gait ataxia OMIM:617330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Attention deficit hyperactivity disorder, Stereotypy OMIM:619005
Pyruvate Carboxylase Deficiency
Dystonia, Tremor, Ataxia, Tip-toe gait, Abnormal pyramidal sign, Recurrent hand flapping ORPHA:3008
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Attention deficit hyperactivity disorder, Stereotypy OMIM:619575
Kleefstra Syndrome
Stereotypy ORPHA:261494
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Gait disturbance, Attention deficit hyperactivity disorder, Stereotypy ORPHA:464311
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Ogden Syndrome
Hypertonia, Stereotypy OMIM:300855
Wiedemann-Steiner Syndrome
Hyperactivity, Stereotypy ORPHA:319182
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Gait disturbance, Stereotypy ORPHA:464306
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Stereotypy, Hypertonia, Hyperkinetic movements, Spasticity, Abnormal pyramidal sign ORPHA:468631
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Stereotypy ORPHA:177907
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Stereotypy OMIM:619512
Early Infantile Epileptic Encephalopathy
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hyperactivity, Spasticity, Episodic ataxia ORPHA:1934
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Poor motor coordination, Dysmetria, Ataxia, Hyperactivity, Unsteady gait OMIM:614756
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Stereotypy, Repetitive compulsive behavior, Stereotypical body rocking, Broad-based gait, Gait at... ORPHA:513456
Cardiofaciocutaneous Syndrome 1
Oculomotor apraxia, Hypertonia, Tongue thrusting OMIM:115150
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Unsteady gait, Stereotypy OMIM:616682
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hyperactivity, Poor coordination, Spastic diplegia, Stereotypy OMIM:309590
Kinsship Syndrome
Spastic tetraparesis, Myoclonus, Stereotypy OMIM:619297
Legius Syndrome
Hyperactivity, Dystonia, Attention deficit hyperactivity disorder ORPHA:137605
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Difficulty walking, Stereotypy OMIM:618653
Arboleda-Tham Syndrome
Gait imbalance, Lower limb hypertonia, Stereotypy OMIM:616268
Dpagt1-Cdg
Tremor, Stereotypical body rocking, Hypertonia, Inability to walk, Ataxia, Akinesia ORPHA:86309
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Tongue thrusting, Broad-based gait, Hemiparesis ORPHA:369950
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Stereotypy OMIM:301066
Oculocerebrorenal Syndrome Of Lowe
Attention deficit hyperactivity disorder, Clonus, Stereotypy ORPHA:534
Mucopolysaccharidosis Type 2
Hyperactivity, Stereotypy ORPHA:580
Mgat2-Cdg
Stereotypical hand wringing ORPHA:79329
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Stereotypy ORPHA:508498
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Gait disturbance, Ataxia, Hypertonia, Stereotypical hand wringing, Broad-based gait ORPHA:268261
Tuberous Sclerosis Complex
Repetitive compulsive behavior, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:805
1P36 Deletion Syndrome
Gait disturbance, Hemiplegia/hemiparesis, Stereotypy ORPHA:1606
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Dystonia, Myoclonus, Exaggerated startle response, Inability to walk, Ster... ORPHA:438213
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response, Stereotypy OMIM:619522
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Spastic tetraparesis, Hypertonia, Stereotypy OMIM:301044
Rubinstein-Taybi Syndrome 1
Hyperactivity, Poor coordination, Unsteady gait, Stereotypy OMIM:180849
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Stereotypy ORPHA:353281
Norrie Disease
Attention deficit hyperactivity disorder, Clonus, Hypertonia, Stereotypy ORPHA:649
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Stereotypy ORPHA:353277
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Stereotypy ORPHA:353284
Coffin-Siris Syndrome 12
Stereotypy OMIM:619325
Wolf-Hirschhorn Syndrome
Stereotypy OMIM:194190
Lowe Oculocerebrorenal Syndrome
Stereotypy OMIM:309000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Stereotypical body rocking, Falls, Tip-toe gait, Broad-based gait OMIM:619503
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Stereotypy, Inability to walk, Poor fine motor coordination, Broad-based gait, Spasticity ORPHA:261537
Mowat-Wilson Syndrome
Stereotypy, Ataxia, Inability to walk, Broad-based gait, Spasticity ORPHA:2152
Primrose Syndrome
Tics, Stereotypy OMIM:259050
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Stereotypy, Inability to walk, Poor fine motor coordination, Broad-based gait, Spasticity 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