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| Nomenclature |
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Symbol:
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Tnnt2tm2Mmto
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Name:
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troponin T2, cardiac;
targeted mutation 2, Sachio Morimoto
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MGI ID: |
MGI:3803301 |
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Synonyms: |
cTnTdeltaK210, Tnnt2tm1.1Mmto |
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Gene:
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Tnnt2
Location:
Chr1:135836386-135852260 bp, + strand
Genetic Position: Chr1,
59.32 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:137784
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Parent Cell Line:
| CCE/EK.CCE (ES Cell) |
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Strain of Origin:
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129S/SvEv-Gpi1c
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Exon 13 was replaced with a floxed neo cassette and an exon 13 containing a deletion of three base pairs that results in the deletion of lysine at position 210 (K210). The neo cassette was removed by germ line, cre-mediated recombination. This mutation mimicks one identified in human patients with dilated cardiomyopathy. Similar levels of troponin T protein are detected in cardiac myofibrils isolated from the hearts of mice homozygous for this mutation and of wild-type mice by sodium dodecyl sulftate-polyacrylamide gel electrophoresis (SDS-PAGE) analysis for total protein. (J:137784, J:173751)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Tnnt2 Mutation:
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4 strains or lines available |
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| References |
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Original: |
J:137784
Du CK et al.,
"Knock-in mouse model of dilated cardiomyopathy caused by troponin mutation."
Circ Res 2007 Jul 20;101(2):185-94
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All: |
7 reference(s)
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Analysis Tools
