A point mutation was introduced that altered codon 365 from one encoding serine to one encoding cysteine (S365C). A loxP flanked neomycin cassette was also inserted into an adjacent intron. (J:67780)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count