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Genetic linkage studies of the splotch neural tube defect gene on mouse chromosome 1

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.

Identiferoai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.56943
Date January 1992
CreatorsMancino, Franca
ContributorsTrasler, D. G. (advisor)
PublisherMcGill University
Source SetsLibrary and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada
LanguageEnglish
Detected LanguageEnglish
TypeElectronic Thesis or Dissertation
Formatapplication/pdf
CoverageMaster of Science (Department of Biology.)
RightsAll items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated.
Relationalephsysno: 001324500, proquestno: AAIMM87670, Theses scanned by UMI/ProQuest.

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