Cre-mediated recombination of loxP sites that flanked exon 6 resulted in the deletion of this exon. The deletion leads to a truncated PER2 protein consisting of the first 188 N-terminal amino acids (out of 1,257) plus 23 unrelated amino acids containing no structural elements involved in interaction with other clock proteins. (J:236282)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count