Des^tm1Cba
Targeted Allele Detail

Summary

• Symbol: Des^tm1Cba
• Name: desmin; targeted mutation 1, Charles Babinet
• MGI ID: MGI:2159584
• Synonyms: Des-, DES-KO, Des^lacZ
• Gene: Des Location: Chr1:75336973-75345223 bp, + strand Genetic Position: Chr1, 38.85 cM, cytoband C3
• Alliance: Des^tm1Cba page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:32928
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: In frame insertion of a lacZ-PGK-neomycin resistance cassette into exon 1 disrupted the gene. Northern blot analyses of skeletal muscle using a 3' exon 1 cDNA probe and using an exon 4-9 cDNA probe did not detect transcript in homozygous mutant mice. Western blot analysis did not detect protein in limb muscle from homozygous mutant mice. Immunocytochemical studies of skeletal, smooth, and cardiac muscle did not detect protein in homozygous mutant mice. (J:32928)

Disease models

Expression

In Mice Carrying this Mutation:	14 assay results
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 Des Mutation: 34 strains or lines available

References

• Original: J:32928 Li Z, et al., Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol. 1996 May 1;175(2):362-6
• All: 33 reference(s)