Use this URL to cite or link to this record in EThOS:
Title: Genetic and phenotypic analysis of Danforth's short-tail mutation in the mouse
Author: Alfred, Jane
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 1996
Availability of Full Text:
Access from EThOS:
Full text unavailable from EThOS. Please try the link below.
Access from Institution:
The principle aim of this project was to finely map the proximal region of mouse chromosome 2, in order to identify markers genetically linked to the Sd gene. To do this, an interspecific backcross in which Sd was segregating, was established and the backcross progeny were haplotyped using a panel of simple sequence repeat markers. Potential candidate genes, such as Pax8 and vimentin, were excluded by backcross mapping, and markers flanking Sd were identified and utilised in the screening of YAC libraries. YACs isolated with these markers were used to generate a YAC contig in the region of Sd. Since tail length in the backcross varies considerably, the backcross has also been used to identify regions of the genome which affect the expressivity of Sd. In a collaboration with Ben Taylor at the Jackson Laboratory, and with Peter Keightly at the University of Edinburgh, several regions of the genome have been found which show association with more or less severely affected tails. QTL analysis has been applied to this data to confirm the presence of modifiers acting on the Sd mutation at these loci. Using an in vitro organ culture assay, the development of embryonic kidney rudiments from Sd mice has been studied. Utilising fluorescent-tagged antibodies against laminin and calbindin, we have used laser-scanning confocal microscopy to make a detailed analysis of the development of Sd kidneys in vitro. From this work we conclude that mutant ureteric buds are able to induce the metanephric mesenchyme to condense and undergo epithelialisation but are unable to branch, either because they lack the receptor to transduce the mesenchymal-derived signal, the signal itself is aberrant or a component of the downstream transduction pathway is affected by the mutation.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (Ph.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available