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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 (Not Applicable)
Mutations:    Insertion, Intragenic deletion
Mutation detailsExons 10, 11, and 12 (and the introns between) were replaced with the corresponding cDNA sequence in which the last 150 bp of exon 11 were removed as well as 3 nucleotides of exon 12 that code for the isoleucine in the C-terminal CSIM sequence. A floxed neo cassette was inserted downstream of exon 12. This allele is predicted to produce a non-farnesylated protein because it lacks the farnesylatible 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:  65 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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last database update
MGI 6.06
The Jackson Laboratory