| First Author | Asahina M | Year | 2021 |
| Journal | Proc Jpn Acad Ser B Phys Biol Sci | Volume | 97 |
| Issue | 2 | Pages | 89-102 |
| PubMed ID | 33563880 | Mgi Jnum | J:303153 |
| Mgi Id | MGI:6511396 | Doi | 10.2183/pjab.97.005 |
| Citation | Asahina M, et al. (2021) JF1/B6F1 Ngly1(-/-) mouse as an isogenic animal model of NGLY1 deficiency. Proc Jpn Acad Ser B Phys Biol Sci 97(2):89-102 |
| abstractText | N-Glycanase 1 (NGLY1) deficiency is a congenital disorder caused by mutations in the NGLY1 gene. Because systemic Ngly1(-/-) mice with a C57BL/6 (B6) background are embryonically lethal, studies on the mechanism of NGLY1 deficiency using mice have been problematic. In this study, B6-Ngly1(-/+) mice were crossed with Japanese wild mice-originated Japanese fancy mouse 1 (JF1) mice to produce viable F2 Ngly1(-/-) mice from (JF1xB6)F1 Ngly1(-/+) mice. Systemic Ngly1(-/-) mice with a JF1 mouse background were also embryonically lethal. Hybrid F1 Ngly1(-/-) (JF1/B6F1) mice, however, showed developmental delay and motor dysfunction, similar to that in human patients. JF1/B6F1 Ngly1(-/-) mice showed increased levels of plasma and urinary aspartylglycosamine, a potential biomarker for NGLY1 deficiency. JF1/B6F1 Ngly1(-/-) mice are a useful isogenic animal model for the preclinical testing of therapeutic options and understanding the precise pathogenic mechanisms responsible for NGLY1 deficiency. |
