Phenotypes Associated with This Genotype

Genotype
MGI:6268326

• Allelic Composition: Dhtkd1^em1Hpr/Dhtkd1^em1Hpr
• Genetic Background: involves: C57BL/6N * FVB/N

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

homeostasis/metabolism

abnormal amino acid metabolism ( J:256227 )

• mice exhibit an increase in 2-oxoadipate (2-OA) accumulation in the liver and an increase in 2-aminoadipic acid (2-AA) levels in the liver and cerebral tissue

• a high-lysine diet does not further increase 2-OA or 2-AA levels

• however, no accumulation of glutaric acid in the liver or brain is seen

behavior/neurological

behavior/neurological phenotype ( J:256227 )

N • mice exhibit normal grip strength and normal behavior on the inverted grid and balance beam at 3 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
2-aminoadipic 2-oxoadipic aciduria		DOID:0111453	OMIM:204750	J:256227