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A. Identify the gene whose mutation is responsible for the SCA1 disease and indicate what genetic mutation is responsible for the SCA1 disease and
A. Identify the gene whose mutation is responsible for the SCA1 disease and indicate what genetic mutation is responsible for the SCA1 disease and what consequence it has on protein primary structure as well as identify.
B. Which organ and type of cell are primarily affected by the mutation? Is this consistent with the symptoms observed in SCA1 patients?
C. Describe the phenotype of the SCA1 mouse. Is it similar to symptoms observed in SCA1 patients?