Biology 3594A Study Guide - Mutation, Phenotype

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An hqx mouse, with only one copy of the bad gene, ends up losing half of it"s hair. Has retinal degeneration, then cerebellar degeneration, then rod and cone loss and function. At the age of a teenager it looks like a really old mouse: genotype. What is the hq mutation: harlequin mice carry an x-linked recessive mutation in the pdcd8 (programmed cell death 8) gene, which encodes a protein known as apoptosis-inducing factor (aif). In normal conditions, this is located in the inner and outer mitochondrial membranes but induces apoptosis when fragmented to the nucleus: aif deficiency leads to increased oxidative stess by ros and decreased atp production. Compare and contrast: plap and cii (mutant detection assays) It is thought that in the hq mouse, there is a reduction of 80% in the aif protein. This protein can scavenge ros (ex. hydrogen peroxide and superoxide anions). Ros increases mutations such as dna lesions, dna breakage, g to t mutations.

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