Exon 4 was replaced with a human exon 4 that represents the arginine variant of the p.R72P polymorphism (SNP rs1042522). A loxP site flanked neomycin resistance gene cassette inserted upstream of exon 2 was removed by Cre-mediated recombination. (J:162466)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count