The K396R point mutation has been introduced into exon 10. The positive selection marker (Puromycin resistance - PuroR) was flanked by FRT sites and inserted into intron 9. The constitutive point mutation allele was generated after Flp-mediated recombination (J:147112)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count