A floxed neo cassette was inserted and a tryptophan to stop mutation was introduced at amino acid 227 via homologous recombination. Cre mediated recombination removed the neo cassette. This mutation results in a truncated protein that lacks the carboxyl terminus. (J:169035)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count