A targeting vector comprised of an frt-flanked neomycin selection cassette and loxP sites flanking exon 9 was inserted into position 10261203 of Chromosome 19, upstream of exon 8. Adult male and female homozygous mutant mice showed a complete lack of expression of the encoded protein as assessed by western blot analysis and reductions in enzymatic activity. (J:222187)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count