The N485I point mutation was introduced into exon 14. The positive selection marker (Puromycin resistance - PuroR) was flanked by F3 sites and inserted in intron 13. 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