Sspn^tm1Kcam
Targeted Allele Detail

Summary

• Symbol: Sspn^tm1Kcam
• Name: sarcospan; targeted mutation 1, Kevin P Campbell
• MGI ID: MGI:2387936
• Gene: Sspn Location: Chr6:145877367-145910949 bp, + strand Genetic Position: Chr6, 77.7 cM
• Alliance: Sspn^tm1Kcam page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:60294
• 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: The gene was disrupted by replacement of exons 2 and 3 with a PGK-neo cassette resulting in deletion of sequences encoding 3 of 4 transmembrane domains, the extracellular loop, and the C-terminal intracellular domain. Absence of gene expression in homozygous animals was demonstrated by Northern blot analysis of skeletal muscle RNA. Western blot analysis of skeletal muscle microsomes, and immunofluorescence analysis of smooth muscle cells from the small intestines further confirmed the absence of encoded protein in homozygous animals. (J:60294)

Disease models

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 2 strains available Cell Lines: 0 lines available
• Carrying any Sspn Mutation: 20 strains or lines available

References

• Original: J:60294 Lebakken CS, et al., Sarcospan-deficient mice maintain normal muscle function. Mol Cell Biol. 2000 Mar;20(5):1669-77
• All: 10 reference(s)