A targeting vector was designed duplicate exons 8-10. Translation of the duplicated exon 8 resullted in the formation of a premature stop codon and therefore the resulting protein lacks the C-terminal domain alpha-helixes. (J:115759)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count