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| Nomenclature |
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Symbol:
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Lmnatm2.1Gbon
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Name:
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lamin A;
targeted mutation 2.1, Gisele Bonne
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MGI ID: |
MGI:5306919 |
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Synonyms: |
LmnadeltaK32 |
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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:180603
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129
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Mutation
description |
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Allele
Type: | |
Targeted (other) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A 3 nucleotide (AAG) deletion that removes lysine 32 was introduced into exon 1 and a floxed neo-cre cassette was inserted into intron 1 via homologous recombination. The neo-cre cassette is self-excising in the male germ line. In homozygous mice protein expression of lamin A/C is reduced in skeletal muscles and it fails to relocalize to the nuclear periphery in developing embryos at E17.5. (J:180603)
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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:180603
Bertrand AT et al.,
"DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death."
Hum Mol Genet 2012 Mar 1;21(5):1037-48
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All: |
1 reference(s)
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Analysis Tools
