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Ttntm1Her
Targeted Allele Detail
Summary
Symbol: Ttntm1Her
Name: titin; targeted mutation 1, Joachim Herz
MGI ID: MGI:2651645
Gene: Ttn  Location: Chr2:76534324-76812891 bp, - strand  Genetic Position: Chr2, 45.13 cM, cytoband D
Alliance: Ttntm1Her page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:81993
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Conditional ready, No functional change)
Mutation:    Insertion
 
Mutation detailsExons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the floxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360. (J:81993)
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: 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: 0 strains available      Cell Lines: 0 lines available
Carrying any Ttn Mutation:  1455 strains or lines available
References
Original:  J:81993 Gotthardt M, et al., Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure. J Biol Chem. 2003 Feb 21;278(8):6059-65
All:  6 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
03/19/2024
MGI 6.23
The Jackson Laboratory