A mutation in the first nucleotide of the fourth intron, changing G to an A, disrupts splicing of the C2cd3 mRNA. RT-PCR using primers in the third and fifth exons of C2cd3 revealed multiple abnormal transcripts. No normal transcript are found by the RT-PCR analysis. (J:142506)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count