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Targeted Allele Detail
Symbol: Ttntm1.1Isrd
Name: titin; targeted mutation 1, Isabelle Richard
MGI ID: MGI:4838322
Synonyms: Ttntm2Gnt
Gene: Ttn  Location: Chr2:76534324-76812891 bp, - strand  Genetic Position: Chr2, 45.13 cM, cytoband D
Germline Transmission:  Earliest citation of germline transmission: J:165576
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsThe sequence encoding a portion of the Mex 6 domain sequence GAA ATA ACA TGG was replaced by GTG AAA GAA AAA in order to lead to the modification of the four amino acids EITW to VKEK as occurs in the FINmaj mutation. In addition, a floxed neo cassette was inserted with the 3' region. The selection cassette was removed by Cre mediated recombination. (J:165576)
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Structures Affected by this Mutation: 12 anatomical structures
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 Ttn Mutation:  879 strains or lines available
Original:  J:165576 Charton K, et al., Removal of the calpain 3 protease reverses the myopathology in a mouse model for titinopathies. Hum Mol Genet. 2010 Dec 1;19(23):4608-24
All:  3 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
MGI 6.17
The Jackson Laboratory