A lysine to arginine substitution at residue 454 (K454R) was introduced into exon 16 and a Neo cassette flanked by loxP sites was inserted into the upstream intron via homologous recombination. The Neo cassette was removed by Cre mediated recombination. (J:162690)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count