banner
Genes Phenotypes Help, News, Blog

Gene: Btaf1 MGI:2147538

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
B-TFIID TATA-box binding protein associated factor 1
Synonyms:
E430027O22Rik

Order Alleles

IMPC Data Collections

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

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.

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
phenotypes		 Matching phenotypes Source
Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature
Short stature, Intrauterine growth retardation OMIM:135950
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Hypertension, Edema OMIM:189800
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Lymphatic Malformation 2
Lymphedema OMIM:611944
Lymphatic Malformation 14
Lymphedema OMIM:620602
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Edema OMIM:178400
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
White Sponge Nevus 2
Edema OMIM:615785
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Ventricular fibrillation, Increased myocard... OMIM:261740
Lymphatic Malformation 10
Lymphedema OMIM:619369
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Lymphatic Malformation 6
Facial edema, Periorbital edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural eff... OMIM:616843
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema ORPHA:1054
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Tricuspid re... OMIM:212093
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967

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 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

The IMPC Newsletter

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

Subscribe to newsletter