Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

Symbol:	Lmnatm2.1Gbon
Name:	lamin A; targeted mutation 2.1, Gisele Bonne
MGI ID:	MGI:5306919
Synonyms:	LmnadeltaK32
Gene:	Lmna  Location: Chr3:88388455-88413842 bp, - strand  Genetic Position: Chr3, 38.84 cM
Alliance:	Lmnatm2.1Gbon page

Germline Transmission:	Earliest citation of germline transmission: J:180603
Parent Cell Line:	Not Specified (ES Cell)
Strain of Origin:	129

Allele Type:    Targeted (Hypomorph) Mutations:    Insertion, Intragenic deletion   Mutation details: A 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)

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

9 anatomical structure(s)

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

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:	6 reference(s)