A retroposon insertion into exon 9 resulted in deletion of exon 9 (174 bp) in the alpha1 and alpha2 transcripts, and deletion of four nucleotides (including the putative initiation codon) and failure of intron 9 splicing in the alpha3 transcript. Partial rescue of the locomotor phenotype with an alpha-chimerin Tg was used as evidenct that Chn was the causal gene of the mutation. (J:125703)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count