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Ttntm1.1Isrd
Targeted Allele Detail
Nomenclature
Symbol: Ttntm1.1Isrd
Name: titin; targeted mutation 1, Isabelle Richard
MGI ID: MGI:4838322
Gene: Ttn  Location: Chr2:76703980-76982547 bp, - strand  Genetic Position: Chr2, 45.13 cM, cytoband D
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:165576
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129S2/SvPas
Mutation
description
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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  21 strains or lines available
References
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 Oct 4;
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
01/20/2015
MGI 5.21
The Jackson Laboratory