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The transgene construct contains the human alpha synuclein sequence with an A53T point mutation and a stop codon engineered at residue 130 which results in a truncated protein lacking the last 10 amino acids at the C-terminus. This sequence is under control of the rat tyrosine hydroxylase (Th) promoter (9 kb of 5' flanking region of the rat Th gene). The purified construct was injected into pronuclei of fertilized (C57BL/6 x C3H)F1 eggs. Copy number is estimated to be ~30. Expression of the transgene product is detected in the midbrain in soma and axons of neurons in the substantia nigra pars compacta. (J:125149)
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
