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| Nomenclature |
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Symbol:
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Lmnatm8Lgf
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Name:
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lamin A;
targeted mutation 8, Loren G Fong
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MGI ID: |
MGI:4868581 |
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Synonyms: |
LmnacsmHG |
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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:167229
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129P2/OlaHsd
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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: Exons 10, 11, and 12 were replaced with a cDNA in which intronic sequences and the last 150 bp of exon 11 were removed as well as 3 nucleotides of exon 12 that specify the isoleucine in the CaaX motif. A floxed neo cassette was inserted downstream of exon 12. This allele is predicted to produce a non-farnesylated protein lacking the isoleucine in the CaaX motif. The absence of A and C isoforms and production of the progerin isoform was confirmed by western blot analysis on liver extracts. (J:167229)
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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:167229
Yang SH et al.,
"Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin."
Hum Mol Genet 2011 Feb 1;20(3):436-44
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All: |
1 reference(s)
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Analysis Tools
