banner
Genes Phenotypes Help, News, Blog

Gene: Taf2 MGI:2443028

Log in to follow

Gene Summary

Name:
TATA-box binding protein associated factor 2
Synonyms:
TAFII150,  4732460C16Rik,  CIF150,  150kDa,  TAF2B

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
preweaning lethality, complete penetrance Taf2tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
long tibia Taf2tm1b(EUCOMM)Hmgu HET Early adult 1.47×10-05
decreased grip strength Taf2tm1b(EUCOMM)Hmgu HET   Early adult 4.81×10-05
increased circulating HDL cholesterol level Taf2tm1b(EUCOMM)Hmgu HET   Early adult 1.49×10-06
abnormal cholesterol homeostasis Taf2tm1b(EUCOMM)Hmgu HET   Early adult 9.50×10-05
increased circulating cholesterol level Taf2tm1b(EUCOMM)Hmgu HET   Early adult 3.32×10-05
hyperactivity Taf2tm1b(EUCOMM)Hmgu HET   Early adult 7.10×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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 Lateral Orientation

10 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

10 Images

View images

Human diseases caused by Taf2 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.

The table below shows human diseases associated to Taf2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
OMIM:615599
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
ORPHA:397951

The table below shows human diseases predicted to be associated to Taf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder OMIM:301033
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia OMIM:232700
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly DECIPHER:8
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... OMIM:620211
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Smith-Magenis Syndrome
Hyperactivity, Hypertriglyceridemia, Self hugging, Head-banging, Short palm, Onychotillomania, Hy... OMIM:182290
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Short foot, Hypercholesterolemia, Clinodactyly, Small hand ORPHA:254531
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia OMIM:306000
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia ORPHA:75234
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... ORPHA:2502
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Lipodystrophy, Congenital Generalized, Type 3
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia OMIM:612526
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Bruxism OMIM:300434
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior OMIM:239500
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia OMIM:605899
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... ORPHA:93356
Laron Syndrome
Hypercholesterolemia, Short toe, Brachydactyly ORPHA:633
Nephrotic Syndrome, Type 11
Arachnodactyly, Partial duplication of thumb phalanx, Hypoalbuminemia, Hypercholesterolemia, Clin... OMIM:616730
Temple Syndrome
Hypertriglyceridemia, Small hand, Short foot, Hypercholesterolemia, Clinodactyly OMIM:616222
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... ORPHA:247585
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Hypertriglyceridemia OMIM:615924
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Small hand, Short clavicles, Tapered finger ORPHA:401923
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short foot, Hypercholesterolemia, Clinodactyly, Small hand ORPHA:96184
Smith-Magenis Syndrome
Hypertriglyceridemia, Toe syndactyly, Self-injurious behavior, Hand polydactyly, Attention defici... ORPHA:819
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Galloway-Mowat Syndrome 7
Hallux valgus, Arachnodactyly, Partial duplication of thumb phalanx, Hypercholesterolemia, Clinod... OMIM:618348
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Pancreatic Lipase Deficiency
Hypocholesterolemia, Steatorrhea OMIM:614338
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... OMIM:250220
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Phenylketonuria
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... OMIM:261600
Megalocornea-Intellectual Disability Syndrome
Tapered finger, Metatarsus valgus, Hypercholesterolemia, Abnormal repetitive mannerisms, Genu varum ORPHA:2479
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:615812
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... ORPHA:567548
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Intellectual Developmental Disorder, Autosomal Recessive 39
Hallux valgus, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Cog4-Cdg
Hypercholesterolemia ORPHA:263501
Galactokinase Deficiency
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia ORPHA:79237
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Osteolytic defects of the dist... ORPHA:2457
Neuhauser Syndrome
Hypercholesterolemia, Genu valgum, Arachnodactyly, Dysphagia OMIM:249310
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... ORPHA:247598
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Congenital Generalized Lipodystrophy
Hypercholesterolemia, Large hands, Hypertriglyceridemia, Increased C-peptide level ORPHA:528
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Sandal gap, Aggressive behavior, Recurrent hand flapping, Self-mutilation OMIM:615516
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia ORPHA:209902
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... ORPHA:412
Isolated Thyroid-Stimulating Hormone Deficiency
Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis morphology, Attention defici... ORPHA:90674
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:278000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Down-sloping shoulders, Coxa valga, Hyperlipidemia, Short clavicles, Osteolytic defec... OMIM:248370
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Contracture of the proximal interphalangeal join... OMIM:620141
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Addictive alcohol use ORPHA:90065
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Postaxial hand polydactyly, Preaxial foot polydactyly, 2-3 toe syndactyly,... OMIM:619471
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... ORPHA:93317
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia OMIM:610644
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... OMIM:271665
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... OMIM:610442
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:79240
Low Phospholipid-Associated Cholelithiasis
Hypercholesterolemia ORPHA:69663
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration ORPHA:264580
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Lowe Oculocerebrorenal Syndrome
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ag... OMIM:309000
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:151660
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Hip dislocation, Genu valgum, Self-injurious behavior, Hypokalemia, ... ORPHA:534
Gaisböck Syndrome
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... ORPHA:90041
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormal metaphysis morphology, Long fibula ORPHA:935
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia ORPHA:275761
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypercholesterolemia, Hypertriglyceridemia ORPHA:363618
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Immunodeficiency 47
Hypercholesterolemia, Decreased circulating copper concentration OMIM:300972
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia ORPHA:79259
Alagille Syndrome 1
Hypercholesterolemia, Hypertriglyceridemia, Short distal phalanx of finger, Hypoplasia of the ulna OMIM:118450
Steinert Myotonic Dystrophy
Aggressive behavior, Oral-pharyngeal dysphagia, Talipes equinovarus, Hypercholesterolemia, Obsess... ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Dysphagia OMIM:606721
Biliary, Renal, Neurologic, And Skeletal Syndrome
Syndactyly, Postaxial polydactyly, Conjugated hyperbilirubinemia, Increased circulating ferritin ... OMIM:619534
Homozygous Familial Hypercholesterolemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia ORPHA:391665
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
ORPHA:397951
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
OMIM:615599

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 Taf2

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 Taf2.

No publications found that use IMPC mice or data for Taf2.

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
Taf2tm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Taf2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Taf2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Taf2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Taf2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Taf2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter