Exons 8, 9, and 10 were replaced with a neomycin selection cassette inserted by homologous recombination. The deleted region encoded residues 162 through 257 and has been shown to be essential for catalytic activity. Protein was undetected by Western blot analyses of homozygous mutant ES cells and mice. (J:85733)
Basic Information
Disruption caused by insertion of vector
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count