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The targeting construct inserted C890T base pair subsitution (S250F)) in exon 7 followied by a self-excising ACN cassette (tACE-Cre/Neo) flanked by loxP sites. The mutation was confirmed by sequencing. The second most commonly reported genetic lesion in AADC deficiency (infant Parkinsonism) is associated with a C835T missense mutation (S250F amino acid alteration) in exon 7 of the human DDC (AADC) gene. (J:250494)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
