Pkd1l2-KO Mouse

Pkd1l2, encoding polycystin-1L2, is a member of the polycystin-1-like subfamily with various alternative splicing forms and two translation initiation sites. It has a small receptor for egg jelly domain, a G-protein-coupled receptor proteolytic site, and is predicted to act as a G-protein-coupled receptor [3]. Pkd1l2 may be involved in cation channel-related functions as it contains strong ion channel signature motifs [4].

In mouse models, upregulation of Pkd1l2 causes a complex neuromuscular disease including muscle atrophy, neuromuscular junction degeneration, and polyneuronal innervation. Ectopic expression in transgenic mice reproduced these myopathic changes, and a positive correlation was found between Pkd1l2 levels and disease severity. Pkd1l2 was shown to associate with endogenous fatty acid synthase in normal skeletal muscle, and abnormal lipid metabolism was observed in diseased mice [1]. Also, knocking out Pkd1l2 in mice along with 12 other ovary-enriched genes did not affect female fertility [2].

In conclusion, Pkd1l2 plays a role in maintaining neuromuscular integrity, as demonstrated by mouse models where its upregulation leads to neuromuscular diseases. Although Pkd1l2 is enriched in the ovary, its knockout alone does not impact female fertility. Understanding Pkd1l2's function contributes to the study of neuromuscular diseases and potentially other physiological processes [1,2].