A floxed pgk-neo cassette upstream of exon 4 and a C to A mutation in exon 4 resulting in a glutamine to lysine substitution at amino acid position 455 (Q455K), were introduced via homologous recombination. Cre mediated recombination removed the neo cassette. (J:179022)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count