The gene was disrupted by insertion of a neomycin resistance gene into exon 2, which encodes transmembrane domains 2-7 (amino acids 99-252). Northern blot analysis detected reduced levels of mutant transcript in kidney, small and large intestines, and high levels of mutant transcript in stomach of homozygous mutant animals. Sequence analysis revealed a cryptic splice donor site at codon 172 of exon 2 spliced to the acceptor of site exon 3. This alternative transcript results in a frameshift eliminating 614 out of 813 amino acids. The deleted region includes 9 out of 12 putative transmembrane domains and the carboxy terminal hydrophilic domain. (J:46545)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count