A loxP site flanked neomycin resistance gene and STOP cassette was inserted into intron 1. Exon 8 was replaced with a modified exon 8 in which a C-to-T substitution results in the amino acid substitution of proline with serine at position 275 (p.P275S). This mutation corresponds to a proven UVB exposure mutational hostspot at human codon 278. Cre-mediated recombination removed the neo/STOP cassette. (J:186114)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count