|Institutional Source||Beutler Lab|
|Gene Name||dystrobrevin alpha|
|Synonyms||alpha-dystrobrevin, adbn, Dtn, a-DB-1, A0, 87K protein, 2210407P21Rik|
|Essential gene?||Probably non essential (E-score: 0.211)|
|Stock #||R7103 (G1)|
|Chromosomal Location||23415135-23659715 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||T to C at 23653379 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000152288 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115832] [ENSMUST00000220904] [ENSMUST00000222726]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
|Validation Efficiency||98% (61/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous targeted mutants exhibit skeletal and cardiac myopathies. Neuromuscular junctions appear to form normally, but their postnatal maturation is compromised. Dtna mutations do not increase the severity of Dmd or Utrn mutants whose products are also part of the dystrophin-glycoprotein complex. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dtna||
(F):5'- CTCAAAGGCCGTGTAAGCTG -3'
(R):5'- TGTCTGGGGATTTACACAGGAG -3'
(F):5'- GAATGCATCTGCGGCTCTCTG -3'
(R):5'- GCATAATGAGCTCTGTGCAGTTACC -3'