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| Nomenclature |
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Symbol:
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Ttntm1Her
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Name:
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titin;
targeted mutation 1, Joachim Herz
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MGI ID: |
MGI:2651645 |
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Gene:
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Ttn
Location:
Chr2:76703980-76982547 bp, - strand
Genetic Position: Chr2,
45.13 cM, cytoband D
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:81993
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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Not Specified
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Mutation
description |
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Allele
Type: | |
Targeted (Floxed/Frt) |
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Mutation: | |
Insertion |
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Mutation details: Exons 358 (MEx1) and 359 (MEx2) were left flanked by single loxP sites. A single frt site remained immediately upstream of the 3' loxP site, but transcription was reported to be unaffected by the presence of the frt and loxP sites. Recombination of the floxed region, which encodes the kinase domain, results in an in frame union of exons 357 and 360. (J:81993)
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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 Ttn Mutation:
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21 strains or lines available |
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| References |
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Original: |
J:81993
Gotthardt M et al.,
"Conditional expression of mutant M-line titins results in cardiomyopathy with altered sarcomere structure."
J Biol Chem 2003 Feb 21;278(8):6059-65
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All: |
3 reference(s)
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Analysis Tools
