Exons 2 and 3 were deleted in ES cells using homologous recombination (Cre/loxP). Splicing of exon 1 to exon 4 causes a frame shift, preventing production of the protein. (J:82809)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count