Exon 11 was replaced with one in which an A-to-T transversion results in the amino acid substitution of arginine with tryptophan at position 465 (p.R465W). A loxP site flanked neomycin resistance gene cassette inserted int intron 11 was removed by cre-mediated recombination. (J:166364)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count