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Tnnt2tm2.1Feah
Targeted Allele Detail
Nomenclature
Symbol: Tnnt2tm2.1Feah
Name: troponin T2, cardiac; targeted mutation 2.1, Ferhaan Ahmad
MGI ID: MGI:5910771
Synonyms: Tnnt2R141W
Gene: Tnnt2  Location: Chr1:135836354-135852260 bp, + strand  Genetic Position: Chr1, 59.32 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:243725
Parent Cell Line:  TC1/TC-1 (ES Cell)
Strain of Origin:  129S6/SvEvTac
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutations:    Insertion, Nucleotide substitutions
 
Mutation detailsThe autosomal dominant Arg141Trp (R141W) mutation found in a family with dilated cardiomyopathy was introduced into exon 9 followed by a floxed neo/zeo cassette via homologous recombination. The neo/zeo cassette was removed via cre-mediated recombination. Reverse transcription-PCR and sequencing of total cardiac RNA confirmed expression of mutant mRNA. (J:243725)
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 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 Tnnt2 Mutation:  39 strains or lines available
References
Original:  J:243725 Ramratnam M, et al., Gene-Targeted Mice with the Human Troponin T R141W Mutation Develop Dilated Cardiomyopathy with Calcium Desensitization. PLoS One. 2016;11(12):e0167681
All:  2 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
06/11/2019
MGI 6.14
The Jackson Laboratory