A PGK-neo cassette is inserted into exon 1. Exon 1 contains the the 5' untranslated sequence and a large portion of the coding region that extends through the sixth transmembrane domain. Northern analysis in RNA prepared from kidneys failed to detect a trasncript. (J:52323)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count