Mapping Data

Experiment

• Experiment
  TEXT-Physical Mapping
• Chromosome
  12
• Reference
  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
• ID
  MGI:1929876

Genes

Gene	Assay Type
Lpin1	direct sequencing

Notes

• Experiment
  The authors had narrowed the fld critical region and identified three candidate genes in J:60252. Genomic analysis of one of the genes, Lpin1, revealed the presence of a complex rearrangement in the gene in fld mice. A deletion resulted in the loss of exons 2 and 3 including the translation initiation site while there was also an inversion of a genomic region covering 40kb containing most of the coding sequence. There was also a duplication of a 0.5kb segment in the 3' UTR. A second mutant fld^2J had a point mutation in the Lpin1 gene. Further studies confirmed that mutations in the Lpin1 gene were responsible for the phenotype of the fld mice.