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| Nomenclature |
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Symbol:
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Ttntm1Brge
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Name:
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titin;
targeted mutation 1, Brenda Gerull
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MGI ID: |
MGI:4359790 |
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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:152736
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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 (knock-in) |
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Mutation: | |
Insertion |
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Mutation details: Exon 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)
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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: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
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All: |
1 reference(s)
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Analysis Tools
