Mtm1 encodes myotubularin, an endosomal phosphatase that dephosphorylates key second messenger lipids PI3P and PI3,5P2 [3]. It is crucial in maintaining normal muscle function and is associated with centronuclear and myotubular myopathies (CNM) [1]. Genetic models, like mouse models, are valuable for studying Mtm1's function.

Loss-of-function mutations in mtm1 in a zebrafish model led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters, indicating Mtm1's importance in hepatobiliary function [2]. In Bin1mck-/-mice, early systemic MTM1 overexpression prevented the development of CNM pathology, and late intramuscular MTM1 expression partially reverted established phenotypes, suggesting a potential therapeutic role of MTM1 in BIN1-related CNM [1].

In conclusion, Mtm1 is essential for normal muscle and liver function. Mouse and zebrafish models have revealed its role in CNM and cholestatic liver disease, respectively. These model-based studies contribute to understanding the pathogenesis of related diseases and developing potential therapies for conditions like BIN1-related CNM.