An induced mutation that was created at The Oak Ridge National Laboratory. A G-to-A mutation at the +1 splice donor site of intron 14 resulted in the skipping of exon 14 in the transcript expressed from this allele. The deleted sequences encode the putative fifth transmemebrane domain. (J:38977)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count