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Lmnatm1Bliu
Targeted Allele Detail
Nomenclature
Symbol: Lmnatm1Bliu
Name: lamin A; targeted mutation 1, Baohua Liu
MGI ID: MGI:6423595
Synonyms: Lmnaf
Gene: Lmna  Location: Chr3:88388455-88413842 bp, - strand  Genetic Position: Chr3, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:287256
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Targeted (Conditional ready)
Mutations:    Insertion, Single point mutation
 
Mutation detailsThe most frequent mutation in Hutchinson-Gilford progeria syndrome, a C to T change, 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). In addition, a loxP flanked neomycin resistance gene was introduced upstream of exon 11. The G609G is equivalent to the human G608G mutation which activates an alternate splicing event and generates a 50-amino acid truncated form of Lamin A, referred to as progerin. (J:287256)
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: 7 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:287256 Sun S, et al., Vascular endothelium-targeted Sirt7 gene therapy rejuvenates blood vessels and extends life span in a Hutchinson-Gilford progeria model. Sci Adv. 2020 Feb;6(8):eaay5556
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)
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last database update
09/27/2022
MGI 6.21
The Jackson Laboratory