ENU mutagenesis caused an A-to-G transition that led to the substitution of cysteine for tyrosine at amino acid residue 15. The mutation shortened the 18 hour half-life of the wild-type protein to under 12 hours. This is considered a hypomorph allele. (J:149205)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count