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Lmnatm12Lgf
Targeted Allele Detail
Nomenclature
Symbol: Lmnatm12Lgf
Name: lamin A; targeted mutation 12, Loren G Fong
MGI ID: MGI:5806143
Synonyms: LmnaG609G
Gene: Lmna  Location: Chr3:88388455-88413842 bp, - strand  Genetic Position: Chr3, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:234711
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Modified isoform(s))
Mutation:    Single point mutation
 
Mutation detailsThe most frequent mutation found in Hutchinson-Gilford progeria syndrome, a C to T transition, was introduced into exon 11. This mutation does not result in a protein sequence change because both encode a glycine at amino acid position 609 (G609G). Aortas show lamin C and large amounts of progerin but only small amounts of lamin A, indicating that the main product of the allele is progerin. (J:234711)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  76 strains or lines available
References
Original:  J:234711 Lee JM, et al., Modulation of LMNA splicing as a strategy to treat prelamin A diseases. J Clin Invest. 2016 Apr 1;126(4):1592-602
All:  4 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)
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last database update
09/22/2022
MGI 6.21
The Jackson Laboratory