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Lmnatm2.1Gbon
Targeted Allele Detail
Nomenclature
Symbol: Lmnatm2.1Gbon
Name: lamin A; targeted mutation 2.1, Gisele Bonne
MGI ID: MGI:5306919
Synonyms: LmnadeltaK32
Gene: Lmna  Location: Chr3:88481148-88509956 bp, - strand  Genetic Position: Chr3, 38.84 cM
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:180603
Parent Cell Line:  Not Specified (ES Cell)
Strain of Origin:  129
Mutation
description
Allele Type:    Targeted
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA 3 nucleotide (AAG) deletion that removes lysine 32 was introduced into exon 1 and a floxed neo-cre cassette was inserted into intron 1 via homologous recombination. The neo-cre cassette is self-excising in the male germ line. In homozygous mice protein expression of lamin A/C is reduced in skeletal muscles and it fails to relocalize to the nuclear periphery in developing embryos at E17.5. (J:180603)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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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:  57 strains or lines available
References
Original:  J:180603 Bertrand AT, et al., DelK32-lamin A/C has abnormal location and induces incomplete tissue maturation and severe metabolic defects leading to premature death. Hum Mol Genet. 2012 Mar 1;21(5):1037-48
All:  2 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/21/2015
MGI 5.21
The Jackson Laboratory