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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 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.

SUBMITTER: Asahina M 

PROVIDER: S-EPMC7897899 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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JF1/B6F1 Ngly1<sup>-/-</sup> mouse as an isogenic animal model of NGLY1 deficiency.

Asahina Makoto M   Fujinawa Reiko R   Fujihira Haruhiko H   Masahara-Negishi Yuki Y   Andou Tomohiro T   Tozawa Ryuichi R   Suzuki Tadashi T  

Proceedings of the Japan Academy. Series B, Physical and biological sciences 20210101 2


N-Glycanase 1 (NGLY1) deficiency is a congenital disorder caused by mutations in the NGLY1 gene. Because systemic Ngly1<sup>-/-</sup> 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<sup>-/+</sup> mice were crossed with Japanese wild mice-originated Japanese fancy mouse 1 (JF1) mice to produce viable F<sub>2</sub> Ngly1<sup>-/-</sup> mice from (JF1×B6)F<sub>1</sub> Ngly1<sup>-/+</s  ...[more]

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