Lpin1^fld-2J
Spontaneous Allele Detail

Summary

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

Mutation origin

• Strain of Origin: C3H/HeJ

Mutation description

• 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

Disease models

Expression

In Structures Affected by this Mutation:

7 anatomical structure(s)

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: 57 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)