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

IMPC Data Collections

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

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.

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
Intrauterine growth retardation, Short stature OMIM:135950
Lipedema
Edema OMIM:614103
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... OMIM:615396
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... OMIM:601493
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, 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
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... OMIM:612158
Left Ventricular Noncompaction 1
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... OMIM:604169
Lymphatic Malformation 2
Lymphedema OMIM:611944
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... OMIM:601494
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... OMIM:163800
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema OMIM:618773
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... OMIM:616249
White Sponge Nevus 2
Edema OMIM:615785
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... OMIM:617300
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... ORPHA:75249
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Short stature, Abnormal mitochondria in muscle tissue, Dilated cardiomyopath... OMIM:252011
Cardiomyopathy, Dilated, 1S
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... OMIM:601214
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... OMIM:616501
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... OMIM:261740
Lymphatic Malformation 10
Lymphedema OMIM:619369
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... OMIM:265300
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... OMIM:619167
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... 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.

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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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