Capn3^tm1.1Hiso
Targeted Allele Detail

Summary

• Symbol: Capn3^tm1.1Hiso
• Name: calpain 3; targeted mutation 1.1, Hiroyuki Sorimachi
• MGI ID: MGI:4829966
• Synonyms: Capn3^C129S, p94KI
• Gene: Capn3 Location: Chr2:120294074-120335400 bp, + strand Genetic Position: Chr2, 60.31 cM
• Alliance: Capn3^tm1.1Hiso page

Muscular dystrophy phenotypes in Capn3^tm1.1Hiso/Capn3^tm1.1Hiso mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:163711
• Parent Cell Line: E14TG2a (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

Allele Type: Targeted (Not Applicable) Mutations: Insertion, Single point mutation Mutation details: Exon 3 was replaced with one in which a T to A transversion produces the amino acid substitution of serine for cysteine at position 129 (C129S). A floxed neo cassette inserted downstream of the modified exon was removed by cre mediated recombination. (J:163711)

Generation of the Capn3^tm1.1Hiso allele

Disease models

Expression

In Structures Affected by this Mutation:

3 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 Capn3 Mutation: 49 strains or lines available

References

• Original: J:163711 Ojima K, et al., Dynamic distribution of muscle-specific calpain in mice has a key role in physical-stress adaptation and is impaired in muscular dystrophy. J Clin Invest. 2010 Aug 2;120(8):2672-83
• All: 4 reference(s)