Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Sspntm1Kcam
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:	Sspntm1Kcam page

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+

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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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

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)