| 28114 |
Q1HFZ0 |
NSUN2_MOUSE |
RNA cytosine C(5)-methyltransferase NSUN2 (EC 2.1.1.-) (Myc-induced SUN domain-containing protein) (Misu) (NOL1/NOP2/Sun domain family member 2) (mRNA cytosine C(5)-methyltransferase) (EC 2.1.1.-) (tRNA cytosine C(5)-methyltransferase) (EC 2.1.1.-, EC 2.1 |
DISRUPTION PHENOTYPE |
Mice are viable but show male sterility (PubMed:22144916, PubMed:23401851). Mice display reduced body weight and partial alopecia; alopecia is caused by impaired stem cell differentiation in the epidermis, leading to a delay in initiation of anagen (PubMed:22144916). Mice lacking both Nsun2 and Trdmt1 display a complete loss of cytosine-C5 tRNA methylation, leading to development defects and impaired cellular differentiation causing lethality before P3 (PubMed:22885326). Male sterility is caused by impaired germ cell differentiation in the testis: meiotic progression of germ cells is blocked into the pachytene stage, while spermatogonial and Sertoli cells are unaffected (PubMed:23401851). {ECO:0000269|PubMed:22144916, ECO:0000269|PubMed:22885326, ECO:0000269|PubMed:23401851}. |