Tcp11l1-KO Mouse

Tcp11l1, as of now, has no widely-known common aliases. Specific essential functions, associated pathways, and its overall biological importance are not clearly elaborated in the provided references. However, genetic models could potentially be valuable for further in-depth functional studies.

One study identified that in a patient with cryptorchidism and non-obstructive azoospermia, a novel approximately 1 Mb microdeletion at 11p13 spanned nine genes including TCP11L1 [1]. Another study found that DNA methylation at cg17485717 (annotated to TCP11L1) mediated 30.5% of cadmium-associated activities of daily living (ADL) disability prevalence, suggesting a potential link between TCP11L1 DNA methylation and heavy-metal-related ADL disability [2].

In summary, while direct evidence from gene-knockout (KO) or conditional-knockout (CKO) mouse models is lacking in the provided references, the identified microdeletion in a patient with reproductive disorders and the DNA methylation-mediated association with ADL disability hint at possible involvement of Tcp11l1 in these disease-related processes. Further research using KO or CKO mouse models could potentially reveal more about its biological functions and contributions to these and other disease areas.

References:

1. Seabra, Catarina M, Quental, Sofia, Neto, Ana Paula, Amorim, António, Lopes, Alexandra M. 2014. A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia. In Reproductive biomedicine online, 29, 388-91. doi:10.1016/j.rbmo.2014.04.017. https://pubmed.ncbi.nlm.nih.gov/24912414/

2. Xiao, Lili, Cheng, Hong, Cai, Haiqing, Zou, Yunfeng, Yang, Xiaobo. 2022. Associations of Heavy Metals with Activities of Daily Living Disability: An Epigenome-Wide View of DNA Methylation and Mediation Analysis. In Environmental health perspectives, 130, 87009. doi:10.1289/EHP10602. https://pubmed.ncbi.nlm.nih.gov/36036794/