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Ttntm1Mgot
Targeted Allele Detail
Summary
Symbol: Ttntm1Mgot
Name: titin; targeted mutation 1, Michael Gotthardt
MGI ID: MGI:3763610
Synonyms: N2B
Gene: Ttn  Location: Chr2:76534324-76812891 bp, - strand  Genetic Position: Chr2, 45.13 cM, cytoband D
Alliance: Ttntm1Mgot page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:125922
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation details: Exon 49, which encodes the N2B extensible region, was replaced with a FRT-flanked neomycin resistance cassette. Chimeric mice were mated with a Flp expressing deleter strain to remove the neomycin cassette, leaving a single FRT site. The deletion of exon 49 leads to splicing of exon 48 to exon 50, which maintains the ORF and produces a mutant form of the protein that lacks a N2B region. The N2B-deficient protein is integrated properly into sarcomeres as demonstrated by immunofluorescence labeling. (J:125922)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 52018 assay results
1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 2 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:  1457 strains or lines available
References
Original:  J:125922 Radke MH, et al., Targeted deletion of titin N2B region leads to diastolic dysfunction and cardiac atrophy. Proc Natl Acad Sci U S A. 2007 Feb 27;104(9):3444-9
All:  10 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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory