The gene was disrupted by insertion of a PGK-hygro cassette into exon 2 (at amino acid 42) via homologous recombination. Absence of gene expression was verified by Western blot analysis of homozygous mutant MEFs using an antibody directed against the C-terminal domain of the human protein. (J:74959)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count