ENU mutagenesis inducted a point mutation in a putative donor splice site mutation (G to T transversion of the third nucleotide of intron 1). Exon 1 skipping result in a 141 bp deletion and loss of the start codon. (J:340685)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count