This phenotypic mutant was identified in an ENU mutagenesis screen. A C to T transition at the second base of intron 2 led to two novel splice variants. One mutant transcript contains a 10 bp deletion while the other has a 26 bp deletion, both leading to a frameshift mutation. (J:99982)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count