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Lmnatm3Stw
Targeted Allele Detail
Summary
Symbol: Lmnatm3Stw
Name: lamin A; targeted mutation 3, Colin L Stewart
MGI ID: MGI:3588578
Synonyms: LMNA-N195K
Gene: Lmna  Location: Chr3:88388455-88413842 bp, - strand  Genetic Position: Chr3, 38.84 cM
Alliance: Lmnatm3Stw page
Mutation
origin
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+
Mutation
description
Allele Type:    Targeted (Humanized sequence)
Mutation:    Insertion
 
Mutation detailsAn N195K missense mutation 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
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:  82 strains or lines available
References
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:  5 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory