A floxed puromycin resistance cassette and 4 copies of the polyadenylation sequence was inserted upstream of a modified exon 1. The sequence of exon 1 was modified to create the amino acid substitution of valine for glycine at position 12 (G12V). (J:224229)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count