Des^tm1Ltho
Targeted Allele Detail

Summary

• Symbol: Des^tm1Ltho
• Name: desmin; targeted mutation 1, L E Thornell
• MGI ID: MGI:3764643
• Synonyms: Des^-
• Gene: Des Location: Chr1:75336973-75345223 bp, + strand Genetic Position: Chr1, 38.85 cM, cytoband C3
• Alliance: Des^tm1Ltho page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:127515
• Parent Cell Line: CK35 (ES Cell)
• Strain of Origin: 129S2/SvPas

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Insertion
• Mutation details: The lacZ gene with a nuclear localization signal was inserted into exon 1. Western blot analysis confirmed the lack of protein expression in the heart. (J:127515)

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Des Mutation: 34 strains or lines available

References

• Original: J:127515 Thornell L, et al., Null mutation in the desmin gene gives rise to a cardiomyopathy. J Mol Cell Cardiol. 1997 Aug;29(8):2107-24
• All: 2 reference(s)