Exons 1 and 2 were deleted by cre-mediated recombination of flanking loxP sites. This resulted in germline deletion of the entire coding region of the gene. (J:88432, J:88668)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count