The transgene contains the following elements: a 6,756 bp DNA fragment containing the putative Per1 promoter sequence and the 5'-untranslated region, which encompasses exon 1 and part of exon 2, a modified Kcnma1 cDNA where arginine codon 207 was changed to glutamine (p.R207Q), and hemoglobin beta poly(A) signal sequences. This is a fast-activating gain-of-function mutation. (J:191740)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count