Biology 2581B Lecture Notes - Lecture 8: Ectopic Expression, Aniridia, Null Allele

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Lecture 7: allele classification: classification of mutations, based on the effect on translation, based on the effect on function. Loss of function: most are recessive, null or amorphic mutation. No eyes, small eyes or reduced eye sizes: similar mutations: pax6 in mice, and aniridia in humans. Incomplete dominance: three alleles r0 null allele r50 loss function allele. Gain of function: increased protein synthesis or a protein that functions better. Hypermorphic mutation: for example, an enzyme with a higher activity, example a mutation in a gene coding for a voltage gated sodium channel, allele is called possum. Whole-body tonic immobility induced by pinching the skin at the back of the neck ( scruffing ) Cannot turn over if laid on the back. Mutation increases activity of sodium channel, allowing more ions to flow in. This is not beneficial to the organism: neomorphic mutation.

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