ACHIEVE:INTRO TO GENETIC ANALYSIS 1TERM
ACHIEVE:INTRO TO GENETIC ANALYSIS 1TERM
12th Edition
ISBN: 9781319401399
Author: Griffiths
Publisher: MAC HIGHER
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Chapter 3, Problem 22P
Summary Introduction

To determine: The reason that mitochondrial mutation often causes the phenotype.

Introduction: Myopathy is a disease in which the muscle fibers do not function properly, resulting in muscular weakness. It is a muscle disorder and its common symptoms are muscle cramps, stiffness, and contraction.

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Mutation in the fibroblast growth factor receptor (FGFR) gene results in achondroplasia (dwarfism), which is a dominant condition caused by a single base substitution (GGG>AGG) that changes the amino acid glycine at position 480 to arginine (G480R) in the FGFR protein. Normally, FGFR is active when FGF binds to it and inhibits excessive bone growth, but the mutant FGFR is constantly active even when FGF is not bound to it. o How can you create a mouse model for achondroplasia? Select all that apply. OPronuclear injection of a mutant copy (G48OR) of the gene to a mouse zygote V CRISPR that knocks in a mutant copy (G480R) of the gene to a mouse genome O CRISPR that knocks out the wild-type gene in a mouse genome O RNAI that knocks down the wild-type gene expression in a mouse genome O FGFR gene inactivated by a marker gene is introduced to embryonic stem cells
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ACHIEVE:INTRO TO GENETIC ANALYSIS 1TERM

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