Glutamic acid codon 457 (GAA) in exon 10 was changed to alanine (GCA) (p.E457A). A self-excising ACN cassette (loxP site + testis-specific ACE promoter driven cre gene + neomycin resistance gene cassette + loxP site) was inserted into intron 9. (J:100929)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count