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| Nomenclature |
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Symbol:
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Lmnatm1Gbon
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Name:
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lamin A;
targeted mutation 1, Gisele Bonne
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MGI ID: |
MGI:3527206 |
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Synonyms: |
LmnaH222P |
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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:95528
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Parent Cell Line:
| CK35 (ES Cell) |
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Strain of Origin:
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129S2/SvPas
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Mutation
description |
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Allele
Type: | |
Targeted (knock-in) |
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Mutation: | |
Nucleotide substitutions |
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Mutation details: An H222P missense mutation was introduced into exon 4. Western blot demonstrated that protein levels were comparable in mutants and wild-type mice. (J:95528)
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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:95528
Arimura T et al.,
"Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies."
Hum Mol Genet 2005 Jan 1;14(1):155-69
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All: |
10 reference(s)
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Analysis Tools
