Exon 23 was replaced with a version containing an A>C point mutation that changes aspartic acid codon 933 into an alanine codon (p.D993A). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 22 was removed through subsequent cre-mediated recombination. (J:249307)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count