Sgca^tm1Isrd
Targeted Allele Detail

Summary

• Symbol: Sgca^tm1Isrd
• Name: sarcoglycan, alpha (dystrophin-associated glycoprotein); targeted mutation 1, Isabelle Richard
• MGI ID: MGI:3784951
• Synonyms: Sgca^77C, Sgca^H77C
• Gene: Sgca Location: Chr11:94853617-94867153 bp, - strand Genetic Position: Chr11, 59.01 cM, cytoband C
• Alliance: Sgca^tm1Isrd page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:133929
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: Exon 3 was replaced with an exon 3 that contained a nucleotide substitution that resulted in the amino acid substitution of cysteine for histidine at position 77 (H77C), mimicking a mutation associated with limb-girdle muscular dystrophy (LGMD2D) in human. A floxed neo cassette was inserted downstream of exon 3 and was subsequently removed by germ-line, cre-mediated recombination. (J:133929)

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 Sgca Mutation: 26 strains or lines available

References

• Original: J:133929 Bartoli M, et al., Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Hum Mol Genet. 2008 May 1;17(9):1214-21
• All: 1 reference(s)