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| Nomenclature |
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Symbol:
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Lmnatm1Lgf
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Name:
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lamin A;
targeted mutation 1, Loren G Fong
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MGI ID: |
MGI:3587791 |
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Synonyms: |
LmnaHG |
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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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Lmnatm1Lgf/Lmnatm1Lgf mice are small and have poorly mineralized bone
Show the 3 image(s) involving this allele.
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Mutation origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:100220
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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 and the last 150 nucleotides of exon 11 were deleted, thereby abolishing production of lamin C and producing a mutated prelamin A that precludes wild-type Lmna synthesis. A loxP flanked neo was inserted downstream of exon 12. Western blot of mutant MEFs demonstrated the expression of large amounts of mutant prelamin A. (J:100220)
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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:100220
Yang SH et al.,
"Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation."
Proc Natl Acad Sci U S A 2005 Jul 19;102(29):10291-6
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All: |
6 reference(s)
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