About   Help   FAQ
Lmnatm8Lgf
Targeted Allele Detail
Summary
Symbol: Lmnatm8Lgf
Name: lamin A; targeted mutation 8, Loren G Fong
MGI ID: MGI:4868581
Synonyms: LmnacsmHG
Gene: Lmna  Location: Chr3:88388455-88413842 bp, - strand  Genetic Position: Chr3, 38.84 cM
Alliance: Lmnatm8Lgf page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:167229
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
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)
Phenotypes
Loading...
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
Loading...
Expression
In Structures Affected by this Mutation: 2 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: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)

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/23/2024
MGI 6.23
The Jackson Laboratory