ENU mutagenesis induced in a T to A transversion at nucleotide 657 in exon 4 resulting in a nonsense mutation of tyrosine 219 (in Np65) to a stop signal. If translated both Np65 and Np55 isoforms would be truncated lacking part of Ig2 and all of the Ig3 and transmembrane domains. (J:75104, J:228717)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count