The two exons encompassing the HIT domain were deleted using cre mediated recombination. The deletion resulted in a frame-shift that caused the loss of the C-terminal 181 amino acids including the histidine triad and zinc finger domains. The mutant transcript was found to be expressed in various tissues, including brain, by Northern blot analysis. (J:113297)
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