Exon 10 of the gene locus was flanked by loxP sites. Upon cre-mediated deletion, a frameshift mutation results in disruption of the transmembrane region and cytoplasmic signaling domain. (J:82809, J:129128)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count