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The transgenic construct contains human BAC RP11-1084E2, encoding full-length CRY2 and incorporating an A260T (amino acid)/GAACGCCA to GAACACCA (nucleotide) mutation. Founder line 25 carries 10 copies of the transgene. The A260T missense mutation was identified in one family affected with Familial Advanced Sleep Phase (FASP). The mutation is located in the phosphate loop of the flavin adenine dinucleotide (FAD) binding domain. (J:257412)
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
