| First Author | Franchi A | Year | 1995 |
| Journal | 9th International Mouse Genome Conference | Pages | 92 (Abstr. 84) |
| Mgi Jnum | J:31496 | Mgi Id | MGI:80242 |
| Citation | Franchi A, et al. (1995) Fine mapping of the osteosclerosis locus (oc) in the pericentromeric region of MMU19. 9th International Mouse Genome Conference :92 (Abstr. 84) |
| abstractText | Full text of Abstract: 84. FINE MAPPING OF THE OSTEOSCLEROSIS LOCUS (oc) IN THE PERICENTROMERIC REGION OF MMU19. A. Franchi, G.F. Carle. LEGM - URA 1462 C.N.R.S. Universite de Nice, France. Osteosclerosis (oc) is an osteopetrotic mutation in the mouse inherited as an autosomal lethal recessive. The oc/oc homozygote mice usually die around three weeks of age, and the mutation has been maintained in oc/+ heterozygotes, which display no abnormal phenotype. Affected animals (oc/oc) exhibit the characteristic radiologic and histologic features of osteopetrosis including a generalized increase in skeletal density and absence of marrow cavities. Ten years ago, S.C. Marks et al.1 mapped oc in the vicinity of MMU19 centromere with a fairly low resolution. We have been able to refine the genetic localization of the oc gene in the pericentromeric region of mouse chromosome 19 using an interspecific backcross of the type (B6C3-a/a Fl oc/+ x Mus spretus)Floc/+ x B6C3-a/a Floc/+ as well as (B6C3-a/a Floc/+ x Mus spretus)Floc/+ x (B6C3-a/a Floc/+ x Mus spretus) Floc/+. Using a dozen of microsatellite markers, we were able to define in our inbred strain an area of C57BL/6 DNA (where the mutation arose) imbedded in a C3H background. The analysis of the recombinant affected animals is in process and will be presented along with the approach for the positional cloning of the gene. 1S.C. Mark, M.F. Seifert and P.W. Lane (1985), J. Hered. 76,171-176. |
