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Aspartic acid codon 620 (GAT) in exon 15 was changed to asparagine (AAT) (p.D620N) and a loxP site flanked neomycin resistance gene cassette was inserted into intron 15. The neo cassette was removed through subsequent Cre-mediated recombination. The equivalent human mutation is found in some familial type 17 Parkinsons disease (PARK17) patients. (J:329507)
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
