Gldc2680+1G&gt;C mice have a c.2680+1G&gt;C splice site donor variant after exon 22 of the glycine decarboxylase (Gldc) gene. Gldc codes a subunit (P protein) of the mitochondrial glycine cleavage system, which catalyzes the degradation of glycine. Mutations in this gene have been associated with glycine encephalopathy and non-ketotic hyperglycinemia (NKH). Heterozygous mice are viable and fertile with no overt phenotype. Homozygous mice are perinatal lethal (n=89). If additional characterization of these mice is performed, we may modify the strain description accordingly.

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Gldc2680+1G&gt;C mice have a 5c.2680+1G&gt;C splice site donor variant after exon 22 of the Gldc gene. These mice may be useful for studying glycine encephalopathy and non-ketotic hyperglycinemia (NKH).

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