Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:125922
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

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)

View phenotypes and curated references for all genotypes (concatenated display).

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)

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

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:	9 reference(s)