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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 (Humanized sequence, Hypomorph, Inserted expressed sequence)
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 and curated references for all genotypes (concatenated display).
Disease models
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:  67 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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MGI 6.11
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