| First Author | Brady KP | Year | 1999 |
| Journal | Genomics | Volume | 56 |
| Issue | 3 | Pages | 254-61 |
| PubMed ID | 10087192 | Mgi Jnum | J:54028 |
| Mgi Id | MGI:1334023 | Doi | 10.1006/geno.1998.5722 |
| Citation | Brady KP, et al. (1999) A novel putative transporter maps to the osteosclerosis (oc) mutation and is not expressed in the oc mutant mouse. Genomics 56(3):254-61 |
| abstractText | 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 la-transmembrane domain proteins with transport functions and maps to proximal mouse chromosome 19, in a region to which the oc mutation has been previously assigned. The putative transporter is abundant in normal kidney, but its expression is markedly reduced in kidneys from oc/oc mice when tested using Northern and Western analyses. Southern analysis of this gene, which we call Roct (reduced in oc transporter), demonstrates that it is intact and unrearranged in oc/oc mice. In situ studies show that Roct is expressed in developing bone. We propose that the absence of Roct expression results in an osteopetrosis phenotype in mice. (C) 1999 Academic Press. |
