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- W2073048087 abstract "The phenotype of mice homozygous for the osteosclerosis (oc) mutation includes osteopetrosis, and a variety of studies demonstrate that osteoclasts in these mice are present but nonfunctional. We have identified a novel gene that has homology to a family of 12-transmembrane domain proteins with transport functions and maps to proximal mouse chromosome 19, in a region to which theocmutation has been previously assigned. The putative transporter is abundant in normal kidney, but its expression is markedly reduced in kidneys fromoc/ocmice when tested using Northern and Western analyses. Southern analysis of this gene, which we callRoct(reduced inoctransporter), demonstrates that it is intact and unrearranged inoc/ocmice.In situstudies show thatRoctis expressed in developing bone. We propose that the absence ofRoctexpression results in an osteopetrosis phenotype in mice." @default.
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- W2073048087 date "1999-03-01" @default.
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- W2073048087 title "A Novel Putative Transporter Maps to the Osteosclerosis (oc) Mutation and Is Not Expressed in theocMutant Mouse" @default.
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- W2073048087 doi "https://doi.org/10.1006/geno.1998.5722" @default.
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