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
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
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, Angioedema, Edema of the dorsum of hands OMIM:619363
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction, Arrhy... OMIM:615373
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Congestive heart failure, Left ventricular noncompaction cardiomy... OMIM:604169
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Lymphatic Malformation 2
Lymphedema OMIM:611944
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Atrial Standstill
Left ventricular noncompaction, Right bundle branch block, Mobitz I atrioventricular block, Atria... ORPHA:1344
Chilblain Lupus 2
Edema OMIM:614415
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Pleural effusion, Polyhydramnios, Generalized edema, Pericardial effusion OMIM:618773
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
White Sponge Nevus 2
Edema OMIM:615785
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertro... OMIM:605676
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Lymphedema, Pericardial effusion, Edema, Facial edema, Pulmonary edema OMIM:617300
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Flexion contracture, Ragged-red muscle fi... OMIM:252011
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Mitral regurgitation, Peripheral edema, ... ORPHA:75249
Naxos Disease
Dilated cardiomyopathy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Co... OMIM:601214
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... OMIM:613426
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Hypertrophic car... OMIM:616501
Lymphatic Malformation 10
Lymphedema OMIM:619369
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Lymphangiectasia, Pulmonary, Congenital
Chylothorax, Nonimmune hydrops fetalis, Pleural effusion, Palpebral edema, Chylous ascites, Polyh... OMIM:265300
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Familial Idiopathic Dilatation Of The Right Atrium
Midsystolic murmur, Right atrial enlargement, Paroxysmal atrial fibrillation, Holosystolic murmur... ORPHA:1677
Lymphatic Malformation 6
Chylothorax, Atrial septal defect, Nonimmune hydrops fetalis, Pleural effusion, Genital edema, Sh... OMIM:616843
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Pa... OMIM:619167
Cardiac Valvular Defect, Developmental
Patent foramen ovale, Tricuspid atresia, Hydrops fetalis, Tricuspid valve prolapse, Mitral stenos... OMIM:212093
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur, Edema ORPHA:1054
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Patent foramen ovale, Atrial septal defect, Left ventricular nonc... 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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