An ENU induced mutation causing a single base pair change that leads to an threonine to isoleucine amino acid substitution at position 172 (Genbank file GU992208); this is position 148 (T148I) in other splice isoforms. (J:169366)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count