2024
DOI: 10.1101/2024.03.26.586818
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Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia

Michael A. Swanson,
Hua Jiang,
Nicolas Busquet
et al.

Abstract: Nonketotic hyperglycinemia due to deficient glycine cleavage enzyme activity causes a severe neonatal epileptic encephalopathy. Current therapies based on mitigating glycine excess have only limited impact. An animal model with postnatal phenotyping is needed to explore new therapeutic approaches. We developed a Gldc p.Ala394Val mutant model and bred it to congenic status in 2 colonies on C57Bl/6J (B6) and J129X1/SvJ (J129) backgrounds. Mutant mice had reduced P-protein and enzyme activity indicating a hypomor… Show more

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