ENU mutagenesis induced a C to A transition at nucleotide 304 of exon 2 (ENMUST00000001079) that result in the amino acid substitution of a stop codon for serine at position 135 (S135X). A 72% reduction in transcript expression was confirmed by qRT-PCR. (J:158452, J:158680)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count