A neomycin resistance cassette was inserted into exon 4 of the gene. Activity assays in liver extracts from homozygous mice demostrated the absence of the functional protein. (J:18326)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count