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Lpin1fld-2J
Spontaneous Allele Detail
Nomenclature
Symbol: Lpin1fld-2J
Name: lipin 1; fatty liver dystrophy 2 Jackson
MGI ID: MGI:1857584
Synonyms: fld2J
Gene: Lpin1  Location: Chr12:16535669-16610966 bp, - strand  Genetic Position: Chr12, 7.9 cM
Mutation
origin
Strain of Origin:  C3H/HeJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA G-to-A transition mutation in codon 84 is predicted to alter this residue from a glycine to an arginine in the encoded protein. This position corresponds to the NLIP domain of the protein and is highly conserved in other species. (J:66739)
Inheritance:    Recessive
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: 1 strain available      Cell Lines: 0 lines available
Carrying any Lpin1 Mutation:  36 strains or lines available
Notes
This remutation arose at the Jackson Laboratory in 1998.
References
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)

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
09/10/2019
MGI 6.14
The Jackson Laboratory