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Targeted Allele Detail
Symbol: Lmnatm2Stw
Name: lamin A; targeted mutation 2, Colin L Stewart
MGI ID: MGI:2662836
Synonyms: Lmnadelta9, LmnaL530P, ProgericL530P
Gene: Lmna  Location: Chr3:88480147-88509956 bp, - strand  Genetic Position: Chr3, 38.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:83382
Parent Cell Line:  W9.5/W95 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Allele Type:    Targeted
Mutation:    Other
Mutation detailsA leucine to proline missense mutation, based on a human mutation associated with Emery-Dreifuss muscular distrophy, was introduced into exon 9 at codon 530 by homologous recombination. A single loxP site remained in intron 9 after a neo selection cassette was removed via in vivo cre mediated recombination. Splicing defects surrounding exon 9 were identified by RT-PCR and sequence analyses and putatively resulted in transcript instability. Consistent with reduced levels of lamin A and C transcripts, protein levels were diminished in MEFs derived from mutant mice. (J:83382)
Inheritance:    Recessive
View phenotypes for all genotypes (concatenated display).
Disease models
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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:83382 Mounkes LC, et al., A progeroid syndrome in mice is caused by defects in A-type lamins. Nature. 2003 May 15;423(6937):298-301
All:  5 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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