Eml6-KO Mouse

Eml6, short for echinoderm microtubule-associated protein like 6, is involved in microtubule-related functions. It plays a crucial role in oocyte meiotic progression, which is essential for the generation of high-quality eggs for reproduction. Additionally, it may be associated with pathways related to cytoskeleton regulation, and its function is relevant in understanding various biological processes and diseases [1,2].

In mice, in vivo knockdown of Eml6 expression by specific siRNA led to chromosome misalignment, alteration in spindle dimension at metaphase Ⅰ and Ⅱ stages, and increased aneuploidy in mature oocytes, suggesting its importance in the accurate segregation of homologous chromosomes during oocyte meiosis [1]. In familial keratoconus, rare, heterozygous, potentially pathogenic variants in Eml6 were identified, and in stromal cell cultures, Eml6 was associated with the fibrillar cytoskeletal network, and its siRNA-mediated inhibition affected the expression of COL1A1, indicating a functional link to stromal cell biology [2].

In conclusion, Eml6 is essential for oocyte meiotic division, ensuring accurate chromosome segregation. Its study in gene-modified mouse models has provided insights into the disease mechanisms of keratoconus. Understanding Eml6's function contributes to our knowledge of reproductive biology and certain genetic eye diseases.

References:

1. Yin, Hong, Hou, Xuan, Zhang, Teng, Shi, Lanying, Su, You-Qiang. . Participation of EML6 in the regulation of oocyte meiotic progression in mice. In Journal of biomedical research, 34, 44-53. doi:10.7555/JBR.33.20190014. https://pubmed.ncbi.nlm.nih.gov/35081682/

2. Shinde, Vishal, Sobreira, Nara, Wohler, Elizabeth S, Willoughby, Colin E, Chakravarti, Shukti. . Pathogenic alleles in microtubule, secretory granule and extracellular matrix-related genes in familial keratoconus. In Human molecular genetics, 30, 658-671. doi:10.1093/hmg/ddab075. https://pubmed.ncbi.nlm.nih.gov/33729517/