A G to C change at position 595 (c.595G>C) resulting in a glycine to arginine substitution at amino acid 199 (p.G199R) was introduced in exon 5 via homologous recombination. A loxP-flanked neomycin cassette was inserted in intron 4 and was removed via cre-mediated recombination. (J:331941)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count