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Gene: Tafa3 MGI:3046463

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Gene Summary

Name:
TAFA chemokine like family member 3
Synonyms:
Tafa-3,  Tafa3,  Sam3,  7530404M11Rik,  Fam19a3

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Tafa3em1(IMPC)Mbp HOM Early adult 0.00
increased bone mineral content Tafa3em1(IMPC)Mbp HOM Early adult 2.66×10-06
abnormal bone structure Tafa3em1(IMPC)Mbp HOM Early adult 1.52×10-12

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tafa3 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 Tafa3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Schizophrenia 15
Hyperactivity OMIM:613950
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
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 64
Impaired social interactions, Aggressive behavior OMIM:618103
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 66
Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Emotional lability, Abnormal repetitive mannerisms, Agitation, Aggressive behavior OMIM:617171
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Parasomnia, Sleep Bruxism Type
Bruxism OMIM:606840
Pick Disease Of Brain
Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep... OMIM:172700
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
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
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
N-Acetylaspartate Deficiency
Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive mannerisms, Self-mutilation OMIM:614063
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618709
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Self-injurious behavior, Impaired social interactions, Stereotypical hand wringing ORPHA:397933
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitive mannerisms OMIM:619150
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Broad-based gait, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:617862
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions OMIM:617820
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria... ORPHA:275864
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
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Emotional lability, Abnormal repetitive mannerisms, Disinhibition, Dysphagia OMIM:612069
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivi... OMIM:613670
Childhood Disintegrative Disorder
Abnormal repetitive mannerisms, Impaired social interactions, Abnormal emotion ORPHA:168782
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Chromosome 3Q29 Deletion Syndrome
Gait ataxia, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:609425
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
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Impaired social interactions, Aggressive behavior ORPHA:329249
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Abnormal repetitive mannerisms, Difficulty walking OMIM:617393
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Inability to walk, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Abnormal repetitiv... OMIM:618917
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
11Q22.2Q22.3 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:444002
Baker-Gordon Syndrome
Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:618218
Pontocerebellar Hypoplasia, Type 11
Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Attention defi... OMIM:617695
Shukla-Vernon Syndrome
Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn... OMIM:301029
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Primary Dystonia, Dyt13 Type
Abnormal repetitive mannerisms ORPHA:98807
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious behavior, Irritability, A... ORPHA:449291
Foxg1 Syndrome
Impaired social interactions, Bruxism, Abnormal repetitive mannerisms, Paroxysmal bursts of laugh... ORPHA:561854
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Hsd10 Disease
Abnormal social behavior, Dysphagia ORPHA:391417
Lopes-Maciel-Rodan Syndrome
Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Lamb-Shaffer Syndrome
Hyperactivity, Abnormal social behavior, Abnormal repetitive mannerisms, Abnormal temper tantrums ORPHA:530983
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Depressi... ORPHA:33543
Severe Intellectual Disability And Progressive Spastic Paraplegia
Abnormal repetitive mannerisms, Shyness ORPHA:280763
Xq28 (MECP2) duplication
Inability to walk, Gait ataxia, Depression, Dysphagia, Abnormal repetitive mannerisms DECIPHER:45
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Aggressive behavior, Impaired social interactions, Attention deficit hyperactivity... OMIM:610042
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Gait disturbance, Inappropriate laughter, Abnormal repetitive mannerisms, ... OMIM:614104
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
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Repetitive compulsive behavior, Compulsive behaviors, Attention deficit hyperactiv... ORPHA:352490
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord... OMIM:620242
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Impaired social interactions, Aggressive behavior OMIM:616083
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
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
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor... OMIM:618825
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Parkinsonism-Dystonia 3, Childhood-Onset
Depression, Impaired social interactions, Dysphagia, Aggressive behavior OMIM:619738
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Bruxism, Abnormal r... OMIM:618342
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615637
Christianson Syndrome
Dysphagia, Gait ataxia, Inappropriate laughter, Truncal ataxia, Abnormal repetitive mannerisms ORPHA:85278
Developmental And Epileptic Encephalopathy 6B
Choreoathetosis, Inability to walk, Abnormal repetitive mannerisms, Ataxia OMIM:619317
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Skin-picking, Abnormal repetitive ma... OMIM:600430
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter OMIM:618347
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms ORPHA:85277
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
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, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Smith-Magenis Syndrome
Hyperactivity, Self hugging, Head-banging, Onychotillomania, Abnormal repetitive mannerisms, Self... OMIM:182290
Early-Onset Autosomal Dominant Alzheimer Disease
Abnormal social behavior, Agitation, Disinhibition ORPHA:1020
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Abnormal repetitive mannerisms, Ataxia, Gait ataxia OMIM:619092
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms, Gait disturbance OMIM:301094
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression ORPHA:98784
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Gait disturbance, Depression ORPHA:457240
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Attention deficit hyperac... OMIM:300986
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dysphagia, Loss of ambulation, Emotional lability, Abnormal repetitive mannerisms ORPHA:79264
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a... OMIM:619121
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ... ORPHA:168491
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Inability to walk, Abnormal repetitive mannerisms OMIM:613443
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Intellectual Developmental Disorder, Autosomal Dominant 34
Broad-based gait, Abnormal repetitive mannerisms, Bruxism OMIM:616351
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Compulsive behaviors, Abnormal repetitive mannerisms OMIM:618430
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Ataxia, Repetitive compulsive behavior, Inability to walk, Dysphagia, Depression, Hostility, Brux... OMIM:300260
Dentici-Novelli Neurodevelopmental Syndrome
Inability to walk, Abnormal repetitive mannerisms OMIM:619877
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms ORPHA:228384
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Aggressive behavior, Bulimia, Self-biting, Stereotypical body rocking, Impaired so... OMIM:300912
Potocki-Lupski Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia OMIM:610883
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Emotional lability, Agitation, Abnormal repetitive mannerisms, Ataxia ORPHA:927
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Abnormal repetitive mannerisms ORPHA:411986
Wagro Syndrome
Aggressive behavior, Agitation, Low frustration tolerance, Compulsive behaviors, Impaired social ... OMIM:612469
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Broad-based gait, Abnormal repetitive mannerisms, Difficulty walking, Gait ataxia OMIM:617807
Bilateral Generalized Polymicrogyria
Self-injurious behavior, Abnormal repetitive mannerisms, Oral-pharyngeal dysphagia ORPHA:208447
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking ORPHA:100924
Developmental And Epileptic Encephalopathy 64
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Bruxism OMIM:618004
Rett Syndrome
Inability to walk, Gait disturbance, Agitation, Difficulty walking, Abnormal repetitive mannerism... ORPHA:778
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... OMIM:300486
Rett Syndrome, Congenital Variant
Tongue thrusting, Irritability, Impaired social interactions, Bruxism, Abnormal repetitive manner... OMIM:613454
Snijders Blok-Campeau Syndrome
Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ... OMIM:618205
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
48,Xxyy Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Depression ORPHA:10
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Pica, Irritability, Obsessive-compulsive trait, Abnormal repetitive mannerisms OMIM:617796
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Hair-pulling, Irritability, Dysphagia, Abnormal repetitive mannerisms ORPHA:447997
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
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
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Abnormal repetitive mannerisms OMIM:618067
Cri-Du-Chat Syndrome
Hyperactivity, Aggressive behavior, Difficulty walking, Abnormal repetitive mannerisms, Self-muti... OMIM:123450
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... OMIM:619293
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Athetosis, Dysphagia, Abnormal repetitive mannerisms OMIM:619435
4Q21 Microdeletion Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:238750
Intellectual Developmental Disorder, Autosomal Dominant 48
Hyperactivity, Abnormal repetitive mannerisms OMIM:617751
48,Xxxy Syndrome
Irritability, Abnormal social behavior, Attention deficit hyperactivity disorder, Abnormal aggres... ORPHA:96263
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention deficit ... OMIM:617061
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde... OMIM:619312
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Histidinemia
Hyperactivity ORPHA:2157
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Inability to walk, Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Chromosome 5P13 Duplication Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive behaviors OMIM:613174
Chromosome 15Q11.2 Deletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impaired social interac... OMIM:615656
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Frequent temper tantrums, Attention deficit hyperactivity disorder, Abnormal repetitive mannerism... OMIM:619103
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia OMIM:619428
Cerebral Creatine Deficiency Syndrome 1
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... OMIM:300352
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
1P21.3 Microdeletion Syndrome
Abnormal eating behavior, Shyness, Aggressive behavior, Self-injurious behavior, Self-mutilation ORPHA:293948
Cystinosis
Polydipsia, Abnormal repetitive mannerisms, Gait disturbance ORPHA:213
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Proximal 16P11.2 Microdeletion Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Attention deficit hyperactivity dis... ORPHA:261197
Prader-Willi Syndrome Due To Translocation
Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention deficit hyp... ORPHA:177907
Metachromatic Leukodystrophy, Late Infantile Form
Emotional lability, Abnormal social behavior ORPHA:309256
White-Sutton Syndrome
Waddling gait, Hyperactivity, Aggressive behavior, Self-injurious behavior, Irritability, Tics, A... OMIM:616364
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive behaviors,... ORPHA:476126
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ... ORPHA:457279
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms ORPHA:500159
Smith-Magenis Syndrome
Self-injurious behavior, Gait disturbance, Abnormal repetitive mannerisms, Attention deficit hype... ORPHA:819
Metachromatic Leukodystrophy, Juvenile Form
Emotional lability, Abnormal social behavior ORPHA:309263
Joubert Syndrome 6
Abnormal repetitive mannerisms, Ataxia OMIM:610688
Phelan-Mcdermid Syndrome
Aggressive behavior, Tongue thrusting, Impaired social interactions, Bruxism, Abnormal repetitive... OMIM:606232
Fg Syndrome Type 1
Attention deficit hyperactivity disorder, Abnormal social behavior, Compulsive behaviors ORPHA:93932
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620073
Rauch-Steindl Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Abnormal repetitive mannerisms, Inappropriate laughter OMIM:615802
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Emotional lability, Delayed early-childhood social milestone development, Abnormal repetitive man... ORPHA:300570
Foxg1 Syndrome Due To 14Q12 Microdeletion
Abnormal repetitive mannerisms ORPHA:261144
Metachromatic Leukodystrophy, Adult Form
Emotional lability, Abnormal social behavior, Depression ORPHA:309271
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Unsteady gait, Abnormal repetitive mannerisms, Self-mutilation, Stereotypica... OMIM:212066
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Compulsive behaviors, Aggressive behavior OMIM:610253
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1001
Tuberous Sclerosis Complex
Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self... ORPHA:805
Den Hoed-De Boer-Voisin Syndrome
Ataxia, Inability to walk, Agitation, Dysphagia, Abnormal repetitive mannerisms, Stereotypical ha... OMIM:619229
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:457351
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Developmental And Epileptic Encephalopathy 2
Inability to walk, Abnormal repetitive mannerisms OMIM:300672
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Ataxia ORPHA:2479
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Abnormal repet... ORPHA:468678
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
Niemann-Pick Disease, Type C2
Abnormal repetitive mannerisms, Ataxia, Dysphagia OMIM:607625
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Bainbridge-Ropers Syndrome
Inability to walk, Self-injurious behavior, Recurrent hand flapping, Abnormal repetitive mannerisms OMIM:615485
Kleefstra Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Self-mutilation, Aggressive behavior ORPHA:261494
Van Esch-O'Driscoll Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Shyness OMIM:301030
Wiedemann-Steiner Syndrome
Hyperactivity, Aggressive behavior, Low frustration tolerance, Dysphagia, Abnormal repetitive man... ORPHA:319182
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Aggressive behavior, Polyphagia, Self-injurious behavior, Impaired ... ORPHA:96121
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Restrictive behavior, Hyperactivity, Broad-based gait, Ataxia, Impulsivity, Aggressive behavior, ... OMIM:619475
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Mend Syndrome
Hyperactivity, Abnormal social behavior, Aggressive behavior ORPHA:401973
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia OMIM:610954
Monosomy 22Q13.3
Hair-pulling, Hyperactivity, Bruxism ORPHA:48652
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Abnormal repetitive mannerisms, Self-mutilation, Attention deficit hyperactivity disorder OMIM:619005
Niemann-Pick Disease Type C
Aggressive behavior, Depression, Disinhibition, Low frustration tolerance, Compulsive behaviors, ... ORPHA:646
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Irritability, Compulsive behaviors, Dysph... OMIM:615873
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Abnormal social behavior, Aggressive behavior ORPHA:314647
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
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... ORPHA:353281
Developmental And Epileptic Encephalopathy 100
Gait ataxia, Abnormal repetitive mannerisms, Choreoathetosis, Dysphagia OMIM:619777
Koolen-De Vries Syndrome Due To A Point Mutation
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Abnormal social behavior, Inappropriate laughter, Attention deficit hyperactivity disorder, Overf... ORPHA:363958
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
Nmda Receptor Encephalitis
Hypersexuality, Depression, Choreoathetosis, Agitation, Mania, Abnormal repetitive mannerisms ORPHA:217253
Kinsship Syndrome
Abnormal repetitive mannerisms, Bruxism OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Gait disturbance ORPHA:464306
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
Trichothiodystrophy
Reduced social reciprocity ORPHA:33364
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:468631
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
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... ORPHA:534
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Loss of ambulation, Unsteady gait, Abnormal repetitive mannerisms OMIM:616682
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
Ogden Syndrome
Irritability, Abnormal repetitive mannerisms, Dysphagia OMIM:300855
Arboleda-Tham Syndrome
Abnormal repetitive mannerisms, Gait imbalance, Dysphagia OMIM:616268
Williams Syndrome
Depression, Compulsive behaviors, Attention deficit hyperactivity disorder, Abnormal social behav... ORPHA:904
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
Norrie Disease
Irritability, Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperact... ORPHA:649
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Tics, Attention deficit hyper... OMIM:259050
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:612474
Lowe Oculocerebrorenal Syndrome
Abnormal repetitive mannerisms, Aggressive behavior OMIM:309000
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Dysphagia OMIM:619522
Coffin-Siris Syndrome 12
Abnormal repetitive mannerisms OMIM:619325
Wolf-Hirschhorn Syndrome
Abnormal repetitive mannerisms OMIM:194190
Mowat-Wilson Syndrome
Abnormal repetitive mannerisms, Impaired social interactions, Dysphagia, Bruxism 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 Tafa3

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 Tafa3.

No publications found that use IMPC mice or data for Tafa3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tafa3em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Tafa3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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