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Targeted Allele Detail
Symbol: Lmnatm3Stw
Name: lamin A; targeted mutation 3, Colin L Stewart
MGI ID: MGI:3588578
Synonyms: LMNA-N195K
Gene: Lmna  Location: Chr3:88480147-88509956 bp, - strand  Genetic Position: Chr3, 38.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:100393
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsA missense mutation encoding an N195K was introduced into exon 3 but did not affect the expression levels or the stability of the transcript. A mutant lamin C protein was detected in hearts, however, the expression was less than that of wild-type, suggesting that the protein was less stable than the wild-type protein. (J:100393)
View phenotypes for all genotypes (concatenated display).
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Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Lmna Mutation:  56 strains or lines available
Original:  J:100393 Mounkes LC, et al., Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice. Hum Mol Genet. 2005 Aug 1;14(15):2167-80
All:  3 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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