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| Nomenclature |
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Symbol:
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Lmnatm3Stw
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Name:
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lamin A;
targeted mutation 3, Colin L Stewart
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MGI ID: |
MGI:3588578 |
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Synonyms: |
LMNA-N195K |
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Gene:
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Lmna
Location:
Chr3:88481148-88509956 bp, - strand
Genetic Position: Chr3,
38.84 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:100393
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Parent Cell Line:
| W9.5/W95 (ES Cell) |
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Strain of Origin:
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129S1/Sv-Oca2+ Tyr+ Kitl+
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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: A missense mutation encoding an N195K was introduced into exon 3 but did not affect the expression levels or the stability of the transcript. A mutant lamin C protein was detected in hearts, however, the expression was less than that of wild-type, suggesting that the protein was less stable than the wild-type protein. (J:100393)
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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 Lmna Mutation:
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58 strains or lines available |
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| References |
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Original: |
J:100393
Mounkes LC et al.,
"Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice."
Hum Mol Genet 2005 Aug 1;14(15):2167-80
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All: |
1 reference(s)
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Analysis Tools
