Phenotypes Associated with This Genotype

Genotype
MGI:2175225

• Allelic Composition: Otc^spf/Otc^spf
• Genetic Background: involves: CD-1

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

homeostasis/metabolism

abnormal amino acid level ( J:784 )

♀ • increase in serum and brain glutamine levels

increased circulating ammonia level ( J:784 )

♀

abnormal metabolism ( J:784 )

♀ • alterations of cerebral metabolites; increase in ammonia, glutamine, alpha-ketoglutarate levels, glucose, and lactate levels in the brain and a decrease in glutamate content, ATP, pyruvate, and coA-SH levels

♀ • mitochondrial NADH/NAD+ ratios are lower than in controls while cytosolic NADH/NAD+ is higher in the brain and liver

♀ • increase in ammonia, glutamine, alpha-ketoglutarate, and lactate levels and decrease in ATP and pyruvate levels in the liver

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ornithine carbamoyltransferase deficiency		DOID:9271	OMIM:311250	J:784