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Capn3tm1.1Hiso
Targeted Allele Detail
Summary
Symbol: Capn3tm1.1Hiso
Name: calpain 3; targeted mutation 1.1, Hiroyuki Sorimachi
MGI ID: MGI:4829966
Synonyms: Capn3C129S, p94KI
Gene: Capn3  Location: Chr2:120294074-120335400 bp, + strand  Genetic Position: Chr2, 60.31 cM
Alliance: Capn3tm1.1Hiso page
Muscular dystrophy phenotypes in Capn3tm1.1Hiso/Capn3tm1.1Hiso 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 detailsExon 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 Capn3tm1.1Hiso allele
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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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: 1 strain available      Cell Lines: 0 lines available
Carrying any Capn3 Mutation:  48 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory