The shiverer mutation involves a large deletion from intron 1 to exon 6. The portion of the gene remaining includes exon 1 and 12.4-14.4 kb of intron 1 sequences. (J:7748, J:7925, J:20098, J:78561)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count