Des^tm1.1Ccrs
Targeted Allele Detail

Summary

• Symbol: Des^tm1.1Ccrs
• Name: desmin; targeted mutation 1.1, Christoph S Clemen and Rolf Schroder
• MGI ID: MGI:5708562
• Synonyms: Des^{tm1(R349P)Cscl&Rfsr}
• Gene: Des Location: Chr1:75336973-75345223 bp, + strand Genetic Position: Chr1, 38.85 cM, cytoband C3
• Alliance: Des^tm1.1Ccrs page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:219616
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted
• Mutations: Insertion, Nucleotide substitutions
• Mutation details: An R349P mutation (AGG to CCC) was inserted in exon 6 and a floxed neo cassette was inserted in intron 6 via homologous recombination. Cre mediated recombination removed the neo cassette. Immunoblot analysis indicates severely reduced expression of the mutant protein. (J:219616)

Disease models

Expression

In Structures Affected by this Mutation:

8 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:219616 Clemen CS, et al., The toxic effect of R350P mutant desmin in striated muscle of man and mouse. Acta Neuropathol. 2015 Feb;129(2):297-315
• All: 5 reference(s)