The third exon was replaced with an HPRT mini gene that was then replaced with a representative sequence containing two amino acid substitutions found in the human sequence (L108M and V111M). These substitutions allow for transmission barrier against mouse scrapies and immunoreactivity to the 3F4 antibody. (J:154937)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count