Genetic linkage studies of the spontaneously arising splotch allele, Sp, were conducted to identify closely linked molecular markers as a preliminary step for the isolation of the mutant gene. Restriction fragment length polymorphism and microsatellite size variation analyses were employed to follow the segregation of Sp in relation to eight or ten loci previously assigned to the proximal portion of mouse chromosome 1. Although results from an interspecific ((Sp/+ x Mus spretus)F1-Sp x C57BL/6J) backcross study were inconclusive, a panel of 125 intraspecific ((Sp/+ x CBA/J)F1-Sp x CBA/J) backcross mice positioned the Sp gene 0.8 $ pm$ 0.8 centiMorgans distal to the Vil/Des/Inha loci and detected no recombinant between the mutant allele and the murine paired box gene, Pax-3, positioning this locus within 2.9 centiMorgans of Sp (95% confidence limits). Concurrent research has identified alterations in Pax-3 in several Sp allelic variants; thus, this study provides additional genetic evidence in support of the candidacy of Pax-3 for the Sp locus. Effects of genetic background on the penetrance and expression of Sp were also observed.
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.56943 |
| Date | January 1992 |
| Creators | Mancino, Franca |
| Contributors | Trasler, D. G. (advisor) |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Biology.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 001324500, proquestno: AAIMM87670, Theses scanned by UMI/ProQuest. |
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