Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1

Mamm Genome. 2013 Feb;24(1-2):44-53. doi: 10.1007/s00335-012-9438-7. Epub 2012 Nov 17.

Abstract

Large-scale N-ethyl-N-nitrosourea (ENU) mutagenesis has provided many rodent models for human disease. Here we describe the initial characterization and mapping of a recessive mutation that leads to degeneration of the incisors, failure of molars to erupt, a grey coat colour, and mild osteopetrosis. We mapped the omi mutation to chromosome 10 between D10Mit214 and D10Mit194. The Ostm1 gene is a likely candidate gene in this region and the grey-lethal allele, Ostm1 ( gl ), and omi mutations fail to complement each other. We show that om/om mice have reduced levels of Ostm1 protein. To date we have not been able to identify the causative mutation. We propose that omi is a novel hypomorphic mutation affecting Ostm1 expression, potentially in a regulatory element.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles*
  • Animals
  • Chromosome Mapping
  • Chromosomes / genetics*
  • Disease Models, Animal
  • Ethylnitrosourea
  • Female
  • Gene Expression Regulation
  • Genes, Lethal
  • Genes, Recessive*
  • Male
  • Membrane Proteins / genetics*
  • Membrane Proteins / metabolism
  • Mice
  • Mice, Inbred C3H
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mutagenesis
  • Mutation
  • Osteopetrosis / genetics
  • Phenotype

Substances

  • Membrane Proteins
  • OSTM1 protein, mouse
  • Ethylnitrosourea