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| Nomenclature |
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Symbol:
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Lmnatm1.1Otin
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Name:
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lamin A;
targeted mutation 1.1, Carlos Lopez-Otin
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MGI ID: |
MGI:5295747 |
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Synonyms: |
LmnaG609G |
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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:177632
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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, Nucleotide substitutions |
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Mutation details: Mice carrying the Lmnatm1Otin allele were crossed with a Cre-deleter mouse to get germline removal of the neomycin resistance cassette. Removal of the neo cassette allows for the expression of the C to T mutation sat nucleotide 1824 seen in Hutchinson-Gilford progeria syndrome patients and activates the cryptic splicing donor site leading to accumulation of the truncated form of prelamin A, called progerin. This allele expresses lamin C, lamin A and progerin. (J:177632)
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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:177632
Osorio FG et al.,
"Splicing-directed therapy in a new mouse model of human accelerated aging."
Sci Transl Med 2011 Oct 26;3(106):106ra107
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All: |
3 reference(s)
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Analysis Tools
