Myh11^tm1.1Dmmz
Targeted Allele Detail

Summary

• Symbol: Myh11^tm1.1Dmmz
• Name: myosin, heavy polypeptide 11, smooth muscle; targeted mutation 1.1, Dianna M Milewicz
• MGI ID: MGI:5582321
• Synonyms: Myh11^R247C
• Gene: Myh11 Location: Chr16:14012392-14109227 bp, - strand Genetic Position: Chr16, 9.71 cM
• Alliance: Myh11^tm1.1Dmmz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:212664
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129S/SvEv

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A loxP site was inserted upstream of a modified exon 7 in which a C to T point mutation results in the amino acid substitution of cysteine for arginine at position 247 (R247C). This mutation mimics a rare variant identified in humans. Flp-mediated recombination removed an FRT flanked neomycin resistance cassette inserted downstream of exon 8, leaving single loxP and FRT sites. (J:212664)

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Myh11 Mutation: 94 strains or lines available

References

• Original: J:212664 Kuang SQ, et al., Rare, nonsynonymous variant in the smooth muscle-specific isoform of myosin heavy chain, MYH11, R247C, alters force generation in the aorta and phenotype of smooth muscle cells. Circ Res. 2012 May 25;110(11):1411-22
• All: 4 reference(s)