An FRT flanked neo cassette was inserted in intron 30 and an R1441G (c.4321C>G) mutation was introduced in exon 31 via homologous recombination. Flp mediated recombination removed the neo cassette. (J:274953)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count