Peer-reviewed veterinary case report
Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.
- Journal:
- Mammalian genome : official journal of the International Mammalian Genome Society
- Year:
- 2013
- Authors:
- Bosman, Erika A et al.
- Affiliation:
- Wellcome Trust Sanger Institute · United Kingdom
- Species:
- rodent
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.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/23160729/