JF1/B6F1 Ngly1^-/- mouse as an isogenic animal model of NGLY1 deficiency.

ABSTRACT: 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 (JF1×B6)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 leve

SUBMITTER: Asahina M 

PROVIDER: S-EPMC7897899 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature