ENU mutagenesis induces an A to C substitution in the splice donor site upstream of exon 51. The predicted peptide lacks 38 amino acids from the AAA ATPase domain 4 and is likely to have a strong disruption in gene activity. (J:138139)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count