After germline-specific Cre-mediated excision of the floxed neomycin cassette achieved by crossing mice carrying the floxed allele with mice expressing either EIIa-cre or protamine 1-cre, the Sgca locus expresses a transcript bearing the H77C missense mutation. The mutant protein is expressed in the sarcolemma of striated muscles, (J:130252)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count