A loxP site, wild-type exons 11/12, FRT-flanked neomycin selection cassette, a second loxP site, and exons 11/12 containing the isoleucine to lysine substitution at amino acid 438 (p.I438K) in exon 12 replaced exons 11 and 12. (J:308554)
Basic Information
Insertion, Nucleotide substitutions
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count