A 10bp deletion was generated, resulting in a frameshift and introduces a stop codon at residue 137. The endoced protein is undetectable in mutant cerebellum, as shown by western blot. (J:250885)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count