|Institutional Source||Beutler Lab|
|Gene Name||myosin, heavy polypeptide 7, cardiac muscle, beta|
|Synonyms||Myhcb, Myhc-b, MyHC-I, B-MHC, MYH-beta/slow, beta-MHC|
|Is this an essential gene?||Probably essential (E-score: 0.894)|
|Stock #||R7257 (G1)|
|Chromosomal Location||54970684-54994626 bp(-) (GRCm38)|
|Type of Mutation||splice site (198 bp from exon)|
|DNA Base Change (assembly)||A to T at 54972490 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000126840 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000085949] [ENSMUST00000102803] [ENSMUST00000168485]|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Myh7||
(F):5'- AAGCTGGGTTTATGCTGCCC -3'
(R):5'- ATCAAGGAGCTCACCTACCAGG -3'
(F):5'- TTTATGCTGCCCTGGGTAC -3'
(R):5'- GTGATCATGGCCCTGACACAATG -3'