Gene Summary

Name:
TAFA chemokine like family member 1
Synonyms:
Tafa-1,  C630007B19Rik,  Fam19a1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased vertical activity Tafa1tm1.1(KOMP)Vlcg HOM Early adult 3.13×10-07
decreased grip strength Tafa1tm1.1(KOMP)Vlcg HOM Early adult 1.33×10-11
hyperactivity Tafa1tm1.1(KOMP)Vlcg HOM   Early adult 2.70×10-09

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote Not available
Eye  Section images heterozygote 100% (2 of 2)
Hippocampus  Section images heterozygote 100% (2 of 2)
Hypothalamus  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Lung  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 0.0% (0 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 100% (2 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Adult LacZ

LacZ Images Section

24 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

12 Images

X-ray

XRay Images Forepaw

9 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Tafa1 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 Tafa1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Mental Retardation, Autosomal Recessive 2
Attention deficit hyperactivity disorder OMIM:607417
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder OMIM:618830
Immunodeficiency 8
Hyperactivity OMIM:615401
Microcephaly 25, Primary, Autosomal Recessive
Attention deficit hyperactivity disorder OMIM:618351
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Attention deficit hyperactivity disorder OMIM:245570
Pick Disease Of Brain
Emotional blunting, Inappropriate laughter, Disinhibition, Polyphagia, Apathy, Diminished motivat... OMIM:172700
Frontotemporal Dementia
Inappropriate laughter, Disinhibition, Polyphagia, Apathy, Diminished motivation, Inappropriate s... OMIM:600274
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Hyperinsulinemia, Aggressive behavior ORPHA:329249
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Leptin Receptor Deficiency
Polyphagia, Aggressive behavior, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Abnorm... OMIM:614963
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder OMIM:617787
Huntington Disease
Inability to walk, Choking episodes, Dystonia, Disinhibition, Aggressive behavior, Polyphagia, De... ORPHA:399
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Polyphagia, Irritability, Hyperactivity OMIM:275000
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Inappropriate laughter, Polyphagia, Ataxia, Hyperactivity, Broad-based gait, Happy demeanor ORPHA:411515
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Dystonia 12
Dystonia, Depression, Dysphagia, Bradykinesia, Emotional lability, Torticollis, Unsteady gait, An... OMIM:128235
Sotos Syndrome 3
Hyperactivity OMIM:617169
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Attention deficit hyperactivity disorder OMIM:204750
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased serum leptin, Polyphagia, Abnormal eating behavior OMIM:614962
Early-Onset Schizophrenia
Low self esteem, Polyphagia, Depression, Abnormal emotion/affect behavior, Impairment in personal... ORPHA:96369
Obesity Due To Sim1 Deficiency
Polyphagia, Hyperinsulinemia, Attention deficit hyperactivity disorder ORPHA:369873
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Chromosome 22Q13 Duplication Syndrome
Bipolar affective disorder, Polyphagia, Attention deficit hyperactivity disorder OMIM:615538
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Spinocerebellar Ataxia 14
Gait ataxia, Depression, Dysphagia, Progressive cerebellar ataxia, Dysmetria, Focal dystonia, Att... OMIM:605361
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Depression, Dysphagia, Bradykinesia, Emotional lability, Craniofacial dystonia, Tort... ORPHA:71517
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Gonadotropin deficiency, Adrenal hypoplasia, Polyphagia, Adrenal insufficiency, Adrenocorticotrop... OMIM:609734
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Polyphagia OMIM:248100
Obesity Due To Prohormone Convertase I Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hyperinsulinemia, Polyphagia, Pituitary hypothyroidism, Central adrenal insufficiency, Decreased ... ORPHA:71526
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:179494
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Insulinoma
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Neoplasm of the adrenal gl... ORPHA:97279
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Polyphagia OMIM:222100
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreatic islet h... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Polyphagia, Diffuse pancreati... ORPHA:276580
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Insulin-Like Growth Factor I Deficiency
Hyperactivity OMIM:608747
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsu... ORPHA:324575
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Hyperinsulinemic hypoglycemia, Polyphagia, Diffuse pancreatic islet hyperplasia, Excess... ORPHA:276556
2Q23.1 Microdeletion Syndrome
Polyphagia, Self-injurious behavior, Ataxia, Paroxysmal bursts of laughter, Hyperactivity ORPHA:228402
Obesity, Hyperphagia, And Developmental Delay
Polyphagia OMIM:613886
Glycine Encephalopathy
Lethargy, Aggressive behavior, Impulsivity, Irritability, Hyperactivity OMIM:605899
Pandas
Claustrophobia, Depression, Agoraphobia, Separation insecurity, Emotional lability, Impulsivity, ... ORPHA:66624
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Impulsivity, Aggressive behavior, Hyperactivity OMIM:604317
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Absence of ... ORPHA:66628
Female Restricted Epilepsy With Intellectual Disability
Aggressive behavior, Abnormal eating behavior, Impulsivity, Anxiety, Hyperactivity ORPHA:101039
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Polyphagia ORPHA:177910
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Obesity
Decreased resting energy expenditure OMIM:601665
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Goiter, Polyphagia... ORPHA:525731
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Dystonia, Bradykinesia, Oculogyric crisis, Attention deficit hyperactivity disorder, Broad-based ... OMIM:617384
Temple Syndrome
Polyphagia, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone s... ORPHA:254516
Phenylketonuria
Self-mutilation, Aggressive behavior, Depression, Irritability, Anxiety, Hyperactivity, Attention... OMIM:261600
Mental Retardation, Autosomal Dominant 43
Impulsivity, Anxiety, Hyperactivity OMIM:616977
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Juvenile Huntington Disease
Dystonia, Gait ataxia, Depression, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Irritabil... ORPHA:248111
Schaaf-Yang Syndrome
Inability to walk, Hypogonadism, Impulsivity, Polyphagia OMIM:615547
Encephalopathy, Progressive, With Or Without Lipodystrophy
Dystonia, Ataxia, Hyperactivity OMIM:615924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
6Q16 Microdeletion Syndrome
Polyphagia, Broad-based gait ORPHA:171829
Fraxe Intellectual Disability
Impulsivity, Aggressive behavior, Hyperactivity ORPHA:100973
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Bipolar affective disorder, Aggressive behavior, Broad-based gait, Irritability, Abnormal fear/an... ORPHA:3077
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Dystonia, Gait ataxia, Aggressive behavior, Dysphagia, Impulsivity, Hyperactivity ORPHA:500180
Chromosome 3Q29 Deletion Syndrome
Anxiety, Gait ataxia, Aggressive behavior, Hyperactivity OMIM:609425
X-Linked Acrogigantism
Increased serum insulin-like growth factor 1, Abnormality of the pituitary gland, Elevated circul... ORPHA:300373
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Chromosome Xq26.3 Duplication Syndrome
Increased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:300942
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Attention deficit hyperactivity disorder OMIM:188570
Xq25 Microduplication Syndrome
Anxiety, Hyperactivity ORPHA:521258
Xq25 Duplication Syndrome
Anxiety, Hyperactivity OMIM:300979
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Hypersexuality, Apathy, Disinhibition, Polyphagia OMIM:607485
Intellectual Developmental Disorder, X-Linked 104
Aggressive behavior, Ataxia, Hyperactivity OMIM:300983
Coffin-Siris Syndrome 8
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:618362
Angelman Syndrome
Inability to walk, Inappropriate laughter, Polyphagia, Aggressive behavior, Dysphagia, Delayed me... ORPHA:72
Landau-Kleffner Syndrome
Gait ataxia, Aggressive behavior, Depression, Emotional lability, Impulsivity, Anxiety, Hyperacti... ORPHA:98818
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Polyphagia, Decreased response to growth hormone stimuation test OMIM:606407
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Hyperactivity OMIM:274270
Lennox-Gastaut Syndrome
Personality disorder, Falls, Aggressive behavior, Hyperactivity ORPHA:2382
Intellectual Developmental Disorder, X-Linked 30
Anxiety, Aggressive behavior, Hyperactivity OMIM:300558
Mental Retardation, Autosomal Recessive 39
Hyperactivity OMIM:615541
Luscan-Lumish Syndrome
Anxiety, Polyphagia, Aggressive behavior OMIM:616831
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:98793
Sim1-Related Prader-Willi-Like Syndrome
Skin-picking, Lethargy, Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroid... ORPHA:398079
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:177904
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity OMIM:300434
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Skin-picking, Polyphagia, Premature pubarche, Premature adrenarche, Decreased circulating T4 leve... ORPHA:177901
Mental Retardation, Autosomal Dominant 1
Self-injurious behavior, Polyphagia, Ataxia, Aggressive behavior OMIM:156200
Stiff Person Spectrum Disorder
Difficulty walking, Hypothyroidism, Agoraphobia, Emotional lability, Exaggerated startle response... ORPHA:3198
Succinic Semialdehyde Dehydrogenase Deficiency
Aggressive behavior, Self-injurious behavior, Ataxia, Anxiety, Hyperactivity OMIM:271980
Bardet-Biedl Syndrome 9
Polydipsia, Polyphagia OMIM:615986
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Dystonia, Ataxia, Hyperactivity OMIM:612716
Cebalid Syndrome
Polyphagia OMIM:618774
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Elevated circulating growth hormone concentration, Aggressive behavior, Decreased ... ORPHA:85327
Man1B1-Cdg
Polyphagia, Broad-based gait ORPHA:397941
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Polyphagia... ORPHA:251937
Pseudohypoparathyroidism Type 1C
Polyphagia, Depression, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Laryngeal dysto... ORPHA:79444
Prader-Willi-Like Syndrome
Abnormality of the endocrine system, Skin-picking, Polyphagia, Premature pubarche, Premature adre... ORPHA:398073
Autosomal Recessive Non-Syndromic Intellectual Disability
Hyperactivity, Dystonia, Impulsivity, Depression ORPHA:88616
Alazami-Yuan Syndrome
Hyperactivity OMIM:617126
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Hyperactivity, Precocious puberty, Broad-based gait, Aggressive behavior ORPHA:457260
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bipolar affective disorder, Aggressive behavior, Depression, Self-injurious behavior, Progressive... ORPHA:485350
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Aggressive behavior, Hyperactivity OMIM:618342
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Hyperactivity, Aggressive behavior, Decreased response to growth hormone stimuation test OMIM:615286
Magel2-Related Prader-Willi-Like Syndrome
Skin-picking, Lethargy, Polyphagia, Premature pubarche, Central hypothyroidism, Hypothalamic lute... ORPHA:398069
X-Linked Adrenoleukodystrophy
Disinhibition, Aggressive behavior, Gait disturbance, Inappropriate sexual behavior, Increased ci... ORPHA:43
Optic Atrophy 11
Dysmetria, Ataxia, Hyperactivity OMIM:617302
Gand Syndrome
Inappropriate laughter, Hyperactivity OMIM:615074
Infantile Neuroaxonal Dystrophy
Choking episodes, Dystonia, Gait disturbance, Ataxia, Emotional lability, Unsteady gait, Impulsiv... ORPHA:35069
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Paroxysmal bursts of laughter, Self-injurious behavior, Hyperactivity OMIM:618718
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:251383
Mental Retardation, Autosomal Recessive 61
Aggressive behavior, Hyperactivity OMIM:617773
Prader-Willi Syndrome
Hyperinsulinemia, Polyphagia, Self-injurious behavior, Adrenal insufficiency, Delayed puberty, Ty... OMIM:176270
Cln5 Disease
Dysdiadochokinesis, Inability to walk, Truncal ataxia, Aggressive behavior, Ataxia, Unsteady gait... ORPHA:228360
Guanidinoacetate Methyltransferase Deficiency
Dystonia, Aggressive behavior, Self-injurious behavior, Ataxia, Hyperactivity, Athetosis ORPHA:382
Pseudohypoparathyroidism Type 1A
Polyphagia, Depression, Pseudohypoparathyroidism, Hypergonadotropic hypogonadism, Laryngeal dysto... ORPHA:79443
Histidinemia
Hyperactivity ORPHA:2157
Mental Retardation, Autosomal Recessive 38
Self-mutilation, Unsteady gait, Aggressive behavior, Hyperactivity OMIM:615516
Ck Syndrome
Irritability, Aggressive behavior, Hyperactivity OMIM:300831
Clark-Baraitser Syndrome
Aggressive behavior, Hyperactivity OMIM:617752
Prader-Willi Syndrome
Polyphagia, Premature pubarche, Premature adrenarche, Central hypothyroidism, Small pituitary gla... ORPHA:739
Neurodegeneration With Brain Iron Accumulation 2B
Dysdiadochokinesis, Dystonia, Gait ataxia, Dysphagia, Bradykinesia, Emotional lability, Impulsivi... OMIM:610217
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Hyperactivity OMIM:618504
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Inappropriate laughter, Dysphagia, Ataxia, Abnormal eating behavior, Hyperactivity, Gait imbalanc... ORPHA:98794
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Aggressive behavior, Polyphagia, Emotional lability, Broad-based gait ORPHA:251028
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Hyperactivity, Unsteady gait, Broad-based gait, Happy demeanor OMIM:617865
Symptomatic Form Of Fragile X Syndrome In Female Carrier
Aggressive behavior, Depression, Hypothyroidism, Self-injurious behavior, Irritability, Anxiety, ... ORPHA:449291
Mental Retardation, Autosomal Recessive 13
Hyperactivity OMIM:613192
Paragangliomas 1
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochro... OMIM:168000
Intellectual Disability, Birk-Barel Type
Dysphagia, Fatiguable weakness of proximal limb muscles, Fatigable weakness of skeletal muscles, ... ORPHA:166108
Secondary Short Bowel Syndrome
Central hypothyroidism, Polyphagia, Primary hypothyroidism ORPHA:95427
Paragangliomas 3
Episodic paroxysmal anxiety, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Elevated ci... OMIM:605373
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Hyperactivity, Precocious puberty, Broad-based gait, Aggressive behavior OMIM:300958
Rasmussen Subacute Encephalitis
Inability to walk, Hemidystonia, Emotional lability, Irritability, Hyperactivity, Attention defic... ORPHA:1929
Craniopharyngioma
Polyphagia, Enlarged pituitary gland, Pituitary hypothyroidism, Central adrenal insufficiency, Hy... ORPHA:54595
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Polyphagia, Aggressive behavior, Depression, Premature adrenarche, Polydipsia, Self-injurious beh... ORPHA:293987
7Q11.23 Microduplication Syndrome
Polyphagia, Aggressive behavior, Self-injurious behavior, Unsteady gait, Anxiety, Dysmetria, Hype... ORPHA:96121
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Depression, Self-injurious behavior, Ataxia, Hyperactivity, Decreased... OMIM:601853
Rubinstein-Taybi Syndrome 2
Hyperactivity OMIM:613684
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Gait ataxia, Aggressive behavior, Delayed puberty, Hyperactivity, Hypogonadism, Mood swings OMIM:300354
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Polyphagia ORPHA:251004
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Aggressive behavior, Hyperactivity OMIM:615824
Intellectual Developmental Disorder, X-Linked 21
Impulsivity, Hyperactivity OMIM:300143
Chromosome 15Q25 Deletion Syndrome
Attention deficit hyperactivity disorder, Hyperactivity OMIM:614294
Severe Neurodegenerative Syndrome With Lipodystrophy
Gait ataxia, Hyperinsulinemia, Ataxia, Limb dystonia, Hyperactivity ORPHA:363400
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperactivity ORPHA:397973
Mental Retardation, Autosomal Dominant 7
Inappropriate laughter, Gait disturbance, Ataxia, Hyperactivity, Happy demeanor OMIM:614104
Adnp Syndrome
Aggressive behavior, Polyphagia, Oral-pharyngeal dysphagia, Anxiety, Attention deficit hyperactiv... ORPHA:404448
Inverted Duplicated Chromosome 15 Syndrome
Aggressive behavior, Self-biting, Hyperactivity, Hypogonadism, Precocious puberty ORPHA:3306
X-Linked Cerebral Adrenoleukodystrophy
Inability to walk, Male hypogonadism, Difficulty walking, Dysphagia, Primary adrenal insufficienc... ORPHA:139396
Citrullinemia Type Ii
Lethargy, Aggressive behavior, Abnormal eating behavior, Irritability, Hyperactivity, Delayed men... ORPHA:247585
Fragile X Syndrome
Hyperactivity OMIM:300624
47,Xyy Syndrome
Increased circulating gonadotropin level, Impulsivity, Hyperactivity, Attention deficit hyperacti... ORPHA:8
Adenylosuccinase Deficiency
Self-mutilation, Inability to walk, Inappropriate laughter, Gait ataxia, Aggressive behavior, Hyp... OMIM:103050
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Aggressive behavior, Hyperactivity ORPHA:369939
Myoclonic-Astatic Epilepsy
Abnormal emotion/affect behavior, Ataxia, Unsteady gait, Hyperactivity, Attention deficit hyperac... ORPHA:1942
16P12.1P12.3 Triplication Syndrome
Skin-picking, Nail-biting, Anxiety, Hyperactivity, Attention deficit hyperactivity disorder, Decr... ORPHA:485405
Smith-Magenis Syndrome
Head-banging, Abnormality of the thyroid gland, Self-mutilation, Hyperactivity OMIM:182290
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Hyperactivity OMIM:300912
Late Infantile Neuronal Ceroid Lipofuscinosis
Inability to walk, Aggressive behavior, Gait disturbance, Ataxia, Low frustration tolerance, Anxi... ORPHA:168491
Hypomagnesemia, Seizures, And Mental Retardation 2
Hyperactivity OMIM:618314
Chromosome 2Q37 Deletion Syndrome
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:600430
X-Linked Creatine Transporter Deficiency
Dystonia, Athetosis, Ataxia, Hyperactivity ORPHA:52503
Potocki-Lupski Syndrome
Hyperactivity, Hypothyroidism, Oral-pharyngeal dysphagia OMIM:610883
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Aggressive behavior, Hyperactivity ORPHA:391307
Hyperthyroidism, Nonautoimmune
Hyperactivity OMIM:609152
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Hyperactivity OMIM:619239
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Anxiety, Aggressive behavior, Ataxia, Hyperactivity OMIM:618430
Cri-Du-Chat Syndrome
Self-mutilation, Aggressive behavior, Difficulty walking, Anxiety, Hyperactivity, Conspicuously h... OMIM:123450
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Abnormal drinking behavior, Dystonia, Elevated circulating thyroid-st... ORPHA:209905
Mend Syndrome
Hyperactivity OMIM:300960
Lipodystrophy, Congenital Generalized, Type 1
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Polyphagia, Hyperinsulinemia OMIM:608594
Lamb-Shaffer Syndrome
Ataxia, Hyperactivity ORPHA:530983
19P13.3 Microduplication Syndrome
Self-injurious behavior, Irritability, Precocious puberty, Hyperactivity ORPHA:447980
Lipodystrophy, Congenital Generalized, Type 2
Decreased serum leptin, Insulin-resistant diabetes mellitus at puberty, Polyphagia, Hyperinsulinemia OMIM:269700
Acrodysostosis 2 With Or Without Hormone Resistance
Congenital hypothyroidism, Diabetes mellitus, Hyperactivity OMIM:614613
Neurodegeneration With Brain Iron Accumulation 1
Dystonia, Akinesia, Depression, Dysphagia, Gait disturbance, Blepharospasm, Ataxia, Bradykinesia,... OMIM:234200
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Ataxia, Hyperactivity OMIM:610042
Mucopolysaccharidosis, Type Iiic
Dysphagia, Hyperactivity OMIM:252930
Wiedemann-Steiner Syndrome
Aggressive behavior, Dysphagia, Low frustration tolerance, Anxiety, Hyperactivity, Decreased resp... ORPHA:319182
Choreoacanthocytosis
Hair-pulling, Emotional lability, Head-banging, Progressive inability to walk, Falls, Hyperactivi... ORPHA:2388
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Attention deficit hyperactivity disorder, Hyperactivity ORPHA:73272
Intellectual Disability-Strabismus Syndrome
Aggressive behavior, Decreased serum insulin-like growth factor 1, Hypothyroidism, Gait disturban... ORPHA:363528
Mucopolysaccharidosis, Type Iiia
Hyperactivity OMIM:252900
Glass Syndrome
Hyperactivity, Aggressive behavior, Broad-based gait, Happy demeanor OMIM:612313
13Q12.3 Microdeletion Syndrome
Self-mutilation, Hyperactivity ORPHA:412035
Mucopolysaccharidosis, Type Iiib
Aggressive behavior, Hyperactivity OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hyperactivity, Low frustration tolerance, Aggressive behavior, Emotional lability OMIM:309520
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Self-mutilation, Low frustration tolerance, Inappropriate laughter, Hyperactivity ORPHA:363686
Mucopolysaccharidosis, Type Iiid
Dysphagia, Hyperactivity OMIM:252940
1P36 Deletion Syndrome
Polyphagia, Dysphagia, Hypothyroidism, Self-injurious behavior, Gait disturbance, Hypogonadism ORPHA:1606
Spastic Paraplegia 29, Autosomal Dominant
Hyperactivity OMIM:609727
Angelman Syndrome
Progressive gait ataxia, Paroxysmal bursts of laughter, Broad-based gait, Hyperactivity OMIM:105830
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Inability to walk, Dystonia, Decreased resting energy expenditure, Fatigable weakness of speech m... ORPHA:404454
Insensitivity To Pain, Congenital, With Anhidrosis
Self-mutilation, Hyperactivity, Emotional lability OMIM:256800
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Gait ataxia, Hyperactivity OMIM:300486
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Aggressive behavior, Broad-based gait, Hyperactivity ORPHA:85293
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hair-pulling, Dysphagia, Irritability, Hyperactivity ORPHA:447997
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity ORPHA:760
Mucopolysaccharidosis Type 3
Fatigable weakness of swallowing muscles, Disinhibition, Aggressive behavior, Hypersexuality, Dys... ORPHA:581
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Pancreatic endocrine tumor, Aggressive behavior, Depression, Pheochromoc... ORPHA:805
Familial Gestational Hyperthyroidism
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:99819
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Activating thyroid-stimulating hormone receptor defect, Thyrotoxicosis with diffuse goite... ORPHA:424
Joubert Syndrome 1
Self-mutilation, Aggressive behavior, Ataxia, Hyperactivity OMIM:213300
Hyperlysinemia
Dysphagia, Tip-toe gait, Dysmetria, Hyperactivity ORPHA:2203
Coffin-Siris Syndrome
Papillary thyroid carcinoma, Aggressive behavior, Oral aversion, Hyperactivity ORPHA:1465
Argininemia
Spastic gait, Irritability, Hyperactivity OMIM:207800
Chromosome 1P36 Deletion Syndrome
Self-mutilation, Polyphagia, Aggressive behavior, Dysphagia, Hypothyroidism, Congenital hypothyro... OMIM:607872
Cerebellar Ataxia, Nonprogressive, With Mental Retardation
Aggressive behavior, Ataxia, Unsteady gait, Dysmetria, Hyperactivity OMIM:614756
Hereditary Sensory And Autonomic Neuropathy Type 4
Self-mutilation, Abnormal emotion/affect behavior, Dysphagia, Difficulty walking, Nail-biting, Im... ORPHA:642
Acrodysostosis With Multiple Hormone Resistance
Pseudohypoparathyroidism, Congenital hypothyroidism, Elevated circulating parathyroid hormone lev... ORPHA:280651
Early Infantile Epileptic Encephalopathy
Episodic ataxia, Dystonia, Self-injurious behavior, Hyperactivity, Precocious puberty ORPHA:1934
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aggressive behavior, Self-injurious behavior, Agoraphobia, Emotional lability, Panic attack, Impu... ORPHA:353281
Alström Syndrome
Puberty and gonadal disorders, Hyperinsulinemia, Polyphagia, Hypergonadotropic hypogonadism, Decr... ORPHA:64

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 Tafa1

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 Tafa1.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Alterations in Dendritic Spine Maturation and Neurite Development Mediated by FAM19A1. Cells (July 2021) Tafa1tm1(KOMP)Vlcg PMC8392516
FAM19A1, a brain-enriched and metabolically responsive neurokine, regulates food intake patterns and mouse behaviors. FASEB journal : official publication of the Federation of American Societies for Experimental Biology (November 2019) Tafa1tm1(KOMP)Vlcg 31689372

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MGI Allele Allele Type Produced
Tafa1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells
Tafa1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice
Tafa1tm445843(L1L2_Bact_P) Targeting vectors

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