Des^tm1Cap
Targeted Allele Detail

Summary

• Symbol: Des^tm1Cap
• Name: desmin; targeted mutation 1, Yassemi Capetanaki
• MGI ID: MGI:2178321
• Synonyms: des^m1
• Gene: Des Location: Chr1:75336973-75345223 bp, + strand Genetic Position: Chr1, 38.85 cM, cytoband C3
• Alliance: Des^tm1Cap page

Myocardium degeneration and calcification in Des^tm1Cap/Des^tm1Cap mice

Show the 8 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:35123
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: A 319 bp segment at the end of exon 1 was deleted and replaced with a neomycin resistance gene. Northern blot and western blot analysis on samples derived from skeletal muscle of homozygous mice confirmed that no transcript or protein is expressed from this allele. (J:35123)

Disease models

Expression

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 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:35123 Milner DJ, et al., Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol. 1996 Sep;134(5):1255-70
• All: 32 reference(s)