Sgcd^tm1Kcam
Targeted Allele Detail

Summary

• Symbol: Sgcd^tm1Kcam
• Name: sarcoglycan, delta (dystrophin-associated glycoprotein); targeted mutation 1, Kevin P Campbell
• MGI ID: MGI:2154694
• Gene: Sgcd Location: Chr11:46861904-47880309 bp, - strand Genetic Position: Chr11, 28.09 cM, cytoband B1.2
• Alliance: Sgcd^tm1Kcam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:57107
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A neomycin resistance cassette replaced exon 2, which encodes 63 amino acids of the intracellular domain and the entire transmembrane domain. Northern blot analysis revealed that a transcript lacking exon 2 sequences is produced from this allele, but no protein was detected in skeletal muscle membrane enriched preparations of homozygous mice by western blot analysis. (J:57107)

Disease models

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Sgcd Mutation: 22 strains or lines available

References

• Original: J:57107 Coral-Vazquez R, et al., Disruption of the sarcoglycan-sarcospan complex in vascular smooth muscle: a novel mechanism for cardiomyopathy and muscular dystrophy. Cell. 1999 Aug 20;98(4):465-74
• All: 10 reference(s)