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The complete coding sequence of the human PRKCG cDNA with the S361G mutation was inserted in the bidirectional pTRE-Tight-BI response plasmid containing aequorea coerulescens green fluorescent protein gene as a reporter. The S361G mutation, located in the kinase domain, is seen in families with spinocerebellar ataxia 14. Five lines were established with line 3 studied further. (J:218354)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Gene Expression
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
