Ttn^tm1Mgot
Targeted Allele Detail

Summary

• Symbol: Ttn^tm1Mgot
• 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: Ttn^tm1Mgot 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)

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)