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| Nomenclature |
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Symbol:
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Lmnatm5Lgf
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Name:
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lamin A;
targeted mutation 5, Loren G Fong
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MGI ID: |
MGI:4457607 |
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Synonyms: |
LmnanPLAO |
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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:160705
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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-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: Introns 10 and 11 of Lmna were deleted thereby abolishing production of lamin C and producing a only non-farnesylated prelamin A. A point mutation was introduced into exon 12 that changes the cysteine of prelamin A's CaaX motif to a serine (i.e. CSIM to SSIM). (J:160705)
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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:160705
Davies BS et al.,
"An accumulation of non-farnesylated prelamin A causes cardiomyopathy but not progeria."
Hum Mol Genet 2010 Jul 1;19(13):2682-94
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All: |
1 reference(s)
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