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Targeted Allele Detail
Symbol: Lmnatm8Lgf
Name: lamin A; targeted mutation 8, Loren G Fong
MGI ID: MGI:4868581
Synonyms: LmnacsmHG
Gene: Lmna  Location: Chr3:88480147-88509956 bp, - strand  Genetic Position: Chr3, 38.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:167229
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
Mutation detailsExons 10, 11, and 12 were replaced with a cDNA in which intronic sequences and the last 150 bp of exon 11 were removed as well as 3 nucleotides of exon 12 that specify the isoleucine in the CaaX motif. A floxed neo cassette was inserted downstream of exon 12. This allele is predicted to produce a non-farnesylated protein lacking the isoleucine in the CaaX motif. The absence of A and C isoforms and production of the progerin isoform was confirmed by western blot analysis on liver extracts. (J:167229)
View phenotypes 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:  56 strains or lines available
Original:  J:167229 Yang SH, et al., Absence of progeria-like disease phenotypes in knock-in mice expressing a non-farnesylated version of progerin. Hum Mol Genet. 2011 Feb 1;20(3):436-44
All:  2 reference(s)

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