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Ttntm1Brge
Targeted Allele Detail
Nomenclature
Symbol: Ttntm1Brge
Name: titin; targeted mutation 1, Brenda Gerull
MGI ID: MGI:4359790
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:152736
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Targeted (Humanized sequence, Inserted expressed sequence)
Mutation:    Insertion
 
Mutation detailsExon 326 was replaced with the exon 326 from human patients with dilated cardiac myopathy due to a two base pairs (AT) insertion at nucleotide 43628. The insertion creates a premature STOP codon and is followed by an inserted neo cassette. (J:152736)
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: 6 anatomical structures
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:  782 strains or lines available
References
Original:  J:152736 Gramlich M, et al., Stress-induced dilated cardiomyopathy in a knock-in mouse model mimicking human titin-based disease. J Mol Cell Cardiol. 2009 Sep;47(3):352-8
All:  3 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
05/15/2018
MGI 6.12
The Jackson Laboratory