Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

B-TFIID TATA-box binding protein associated factor 1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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.

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.

Phenotype associated images not available

Human diseases caused by Btaf1 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 Btaf1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Intrauterine growth retardation, Short stature OMIM:135950
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Hypertension, Edema OMIM:189800
Lymphatic Malformation 2
Lymphedema OMIM:611944
Lymphatic Malformation 14
Lymphedema OMIM:620602
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... ORPHA:154
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis OMIM:618773
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
White Sponge Nevus 2
Edema OMIM:615785
Lymphatic Malformation 7
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... OMIM:617300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Sh... OMIM:252011
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Glycogen Storage Disease Of Heart, Lethal Congenital
Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasarca, T-wave inver... OMIM:261740
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... OMIM:265300
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Left ventri... OMIM:619167
Aneurysm Of Sinus Of Valsalva
Congestive heart failure, Aortic regurgitation, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction ... OMIM:300967


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 Btaf1

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 Btaf1.

No publications found that use IMPC mice or data for Btaf1.

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
Btaf1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Btaf1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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