This ENU induced mutation has been identified as a T-to-A transversion in exon 18, at nucleotide position 2913 of the cDNA sequence (transcript Ccdc171-001; ENSMUST00000053414), resulting in replacement of a codon for cysteine by a translation termination (stop) codon at amino acid position 862 (C862Ter) of the normal 1312-amino acid protein. (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count