A loxP site flanked neomycin resistance gene was inserted into intron 8 and a G-to-C point mutation was created at position 1365 (GenBank M24119) in exon 9 causing a D-to-H amino acid substitution at residue 427 (409 in mature protein) (p.D427H). The neo cassette was then removed through subsequent Cre-mediated recombination. (J:86334)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count