The exon encoding the third outer loop of the protein (aa 214 through 268) which makes up a portion of the putative catalytic domain was removed by cre-mediated recombination. While shortened transcript was revealed by Northern blot analaysis of RNA obtained from homozygous mutant embryoid bodies, no protein was detected by Western blot analysis of primary cultured cells. Endogenous phosphatase activity was abolished in homozygous mutant embryoid bodies. (J:84753)
Basic Information
129S1/Sv-Oca2+ Tyr+ Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count