title: Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1.
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.
authors.affiliation: Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK. eabosman@yahoo.com
authors.forename: Erika A
authors.initials: EA
authors.lastname: Bosman
authors.forename: Jeanne
authors.initials: J
authors.lastname: Estabel
authors.forename: Ozama
authors.initials: O
authors.lastname: Ismail
authors.forename: Christine
authors.initials: C
authors.lastname: Podrini
authors.forename: Jacqueline K
authors.initials: JK
authors.lastname: White
authors.forename: Karen P
authors.initials: KP
authors.lastname: Steel
mesh_terms: D000483:Alleles; D000818:Animals; D002874:Chromosome Mapping; D002875:Chromosomes / Q000235:genetics*; D004195:Disease Models, Animal; D005038:Ethylnitrosourea; D005260:Female; D005786:Gene Expression Regulation; D005804:Genes, Lethal; D005808:Genes, Recessive; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D051379:Mice; D008809:Mice, Inbred C3H; D008810:Mice, Inbred C57BL; D018345:Mice, Knockout; D016296:Mutagenesis; D009154:Mutation; D010022:Osteopetrosis / Q000235:genetics; D010641:Phenotype
chemical_list: D008565:Membrane Proteins; C509143:OSTM1 protein, mouse; D005038:Ethylnitrosourea