Tmem184c-KO Mouse

Tmem184c, whose full name is Transmembrane Protein 184C, is a gene whose exact function is not comprehensively elaborated in the given references. However, it is located within certain chromosomal regions associated with significant biological traits. It is involved in chromosomal segments related to skeletal muscle development in Boer goats and X-linked congenital hypertrichosis syndrome in humans.

In Boer goats, a 1.1 Mb duplication CNV on chromosome 17 containing Tmem184c among other genes contributes to skeletal muscle development. The homozygous duplicated genotype of this CNV is highly prevalent in Boer goats, suggesting a role of Tmem184c, along with neighboring genes, in the superior skeletal muscle growth of these goats [1].

In a human family with X-linked congenital hypertrichosis syndrome, an interchromosomal insertion at Xq27.1 of a genomic fragment on 4q31.2 encompasses PRMT10 and Tmem184c, among others, indicating a potential link between Tmem184c and this rare genetic disorder [2].

In conclusion, Tmem184c is associated with skeletal muscle development in goats and X-linked congenital hypertrichosis syndrome in humans. The findings from these genetic models, although not involving traditional KO/CKO mouse models, provide insights into its possible roles in specific biological processes and disease-related conditions. Understanding Tmem184c can potentially contribute to both animal breeding strategies for improved muscle development and human genetic disease research.

References:

1. Yuan, Ying, Zhang, Wei-Yi, Yang, Bai-Gao, Zhao, Zhong-Quan, E, Guang-Xin. . A 1.1 Mb duplication CNV on chromosome 17 contributes to skeletal muscle development in Boer goats. In Zoological research, 44, 303-314. doi:10.24272/j.issn.2095-8137.2022.384. https://pubmed.ncbi.nlm.nih.gov/36785897/

2. Zhu, Hongwen, Shang, Dandan, Sun, Miao, Jing, Tao, Zhang, Xue. . X-linked congenital hypertrichosis syndrome is associated with interchromosomal insertions mediated by a human-specific palindrome near SOX3. In American journal of human genetics, 88, 819-826. doi:10.1016/j.ajhg.2011.05.004. https://pubmed.ncbi.nlm.nih.gov/21636067/