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

Symbol:	Lpin1fld-2J
Name:	lipin 1; fatty liver dystrophy 2 Jackson
MGI ID:	MGI:1857584
Synonyms:	fld2J
Gene:	Lpin1  Location: Chr12:16585670-16696967 bp, - strand  Genetic Position: Chr12, 7.9 cM
Alliance:	Lpin1fld-2J page

Strain of Origin:

C3H/HeJ

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: A G-to-A transition mutation in codon 84 alters this residue from a glycine to an arginine in the encoded protein (p.G84R). This position corresponds to the NLIP domain of the protein and is highly conserved in other species. (J:66739) Inheritance:    Recessive

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

In Structures Affected by this Mutation:

7 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Lpin1 Mutation:	56 strains or lines available

Original:	J:66739 Peterfy M, et al., Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin. Nat Genet. 2001 Jan;27(1):121-4
All:	3 reference(s)