First Author | Bosman EA | Year | 2013 |
Journal | Mamm Genome | Volume | 24 |
Issue | 1-2 | Pages | 44-53 |
PubMed ID | 23160729 | Mgi Jnum | J:195249 |
Mgi Id | MGI:5476907 | Doi | 10.1007/s00335-012-9438-7 |
Citation | Bosman EA, et al. (2013) Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1. Mamm Genome 24(1-2):44-53 |
abstractText | 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. |