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Targeted Allele Detail
Symbol: Lmnatm1.1Otin
Name: lamin A; targeted mutation 1.1, Carlos Lopez-Otin
MGI ID: MGI:5295747
Synonyms: LmnaG609G
Gene: Lmna  Location: Chr3:88480147-88509956 bp, - strand  Genetic Position: Chr3, 38.84 cM
Germline Transmission:  Earliest citation of germline transmission: J:177632
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129P2/OlaHsd
Allele Type:    Targeted
Mutations:    Insertion, Nucleotide substitutions
Mutation detailsMice carrying the Lmnatm1Otin allele were crossed with a Cre-deleter mouse to get germline removal of the neomycin resistance cassette. Removal of the neo cassette allows for the expression of the C to T mutation sat nucleotide 1824 seen in Hutchinson-Gilford progeria syndrome patients and activates the cryptic splicing donor site leading to accumulation of the truncated form of prelamin A, called progerin. This allele expresses lamin C, lamin A and progerin. (J:177632)
View phenotypes for all genotypes (concatenated display).
Disease models
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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:177632 Osorio FG, et al., Splicing-directed therapy in a new mouse model of human accelerated aging. Sci Transl Med. 2011 Oct 26;3(106):106ra107
All:  6 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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