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Gene knockout mouse models of human Tay-Sachs and Sandhoff diseases and their effects on the male reproductive system

$ beta$-Hexosaminidase is a lysosomal enzyme which exists as two isoenzymes: Hex A ($ alpha beta$) and Hex B ($ beta beta$). Its presence in the testis and epididymis suggest important roles for this enzyme and their substrates in male fertility and reproductive functions. The main focus of this investigation was to analyze the effects of a deficiency of these isoenzymes within the male murine reproductive tract. Disruption of the Hexa gene encoding the $ alpha$-subunit of $ beta$-hexosaminidase led to the generation of a mouse model of human Tay-Sachs while disruption of the Hexb gene encoding the $ beta$-subunit of $ beta$-hexosaminidase led to a mouse model of human Sandhoff disease, thus providing the opportunity to analyze the effects of Hex A and Hex B deficiency on epithelial cellular morphology of the male reproductive tract. Analysis of the testis, efferent ducts and epididymidis of 5 weeks, 3, 5 and 12 month old Tay-Sachs (Hexa $-/-$) and 1 and 3 month old Sandhoff (Hexb, $-/-$) was performed; the wild-type (Hexa +/+, Hexb +/+) mice at all ages were also examined as controls. (Abstract shortened by UMI.)

Identiferoai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.27415
Date January 1997
CreatorsSomani, Imtiaz Habib.
ContributorsHermo, Louis (advisor), Trasler, Jacquetia (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 Anatomy and Cell Biology.)
RightsAll items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated.
Relationalephsysno: 001549485, proquestno: MQ29790, Theses scanned by UMI/ProQuest.

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