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

Symbol:	Lmnatm1Gbon
Name:	lamin A; targeted mutation 1, Gisele Bonne
MGI ID:	MGI:3527206
Synonyms:	LmnaH222P
Gene:	Lmna  Location: Chr3:88388455-88413842 bp, - strand  Genetic Position: Chr3, 38.84 cM
Alliance:	Lmnatm1Gbon page

Germline Transmission:	Earliest citation of germline transmission: J:95528
Parent Cell Line:	CK35 (ES Cell)
Strain of Origin:	129S2/SvPas

Allele Type:    Targeted (Humanized sequence) Mutation:    Nucleotide substitutions   Mutation details: An H222P missense mutation was introduced into exon 4. Western blot demonstrated that protein levels were comparable in mutants and wild-type mice. (J:95528)

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

In Mice Carrying this Mutation:	2 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	14 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:95528 Arimura T, et al., Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies. Hum Mol Genet. 2005 Jan 1;14(1):155-69
All:	34 reference(s)