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The transgenic construct contains the complete sequence of the human PER3 gene from BAC clone RP11-417D2 (CHORI). The BAC is modified by the targeted mutaton of PERC3 to contain the P415A and H417R missense mutations resulting in an amino acid substitution of proline for alanine at position 415 and histidine for arginine at position 417. These two rare variants are assocated with familial advanced sleep phase (FASP) and seasonal affective disorder (SAD). (J:229233)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
