A point mutation was introduced that altered codon 369 from one encoding glycine to one encoding cysteine (G369C). A loxP flanked neomycin cassette was also inserted into an adjacent intron. Normal splicing is abolished in this allele. (J:69849)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count