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An alanine to threonine substitution at amino acid 393 (p.A393T) was introduced in exon 8 along with an FRT-flanked neomycin resistance cassette 290 bp downstream of exon 8. The neomycin resistance cassette was removed via flp-mediated recombination. The A393T corresponds to human A391T missense variant that is associated with a variety of traits ranging from Parkinsons disease and neuropsychiatric disease to cardiovascular and metabolic diseases and Crohns disease. (J:299683)
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
