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CRISPR/cas9 genome editing was used to introduce a p.S751A (serine to alanine, TCG to GCG) mutation and additional synonymous mutations (altering the PAM motif to increase editing efficiency and facilitate genotyping) in zygotes containing the Atxn1tm1Hzo allele. The p.S751A mutation in mouse is homologous to p.S776A in human. The mutation abolishes phosphorylation of the protein, as confirmed by western blotting. ATXN1 protein levels are reduced in all tested brain regions. (J:305291)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
