Cre mediated recombination resulted in the deletion of exons 3-5. Loss of this sequence produced a truncated, nonfunctional protein lacking the PIK, catalytic, and C2 domains that are required for induction of keratinocyte differentiation in vitro. Transcript was not detected in keratinocytes from mutants. Western blot failed to detect protein in mutant epidermis as well as brain and testis. (J:103754)
Basic Information
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count