Phenotypes associated with this allele

• Allele Symbol: Dhtkd1^em1Hpr
• Allele Name: endonuclease-mediated mutation 1, Holger Prokisch
• Allele ID: MGI:6268324
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dhtkd1^em1Hpr/Dhtkd1^em1Hpr	involves: C57BL/6N * FVB/N	MGI:6268326
cx2	Dhtkd1^em1Hpr/Dhtkd1^em1Hpr Gcdh^tm1Dmk/Gcdh^tm1Dmk	involves: 129S4/SvJae * C57BL/6N * FVB/N	MGI:6268330

Genotype
MGI:6268326

hm1

• 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

Genotype
MGI:6268330

cx2

• Allelic Composition: Dhtkd1^em1Hpr/Dhtkd1^em1Hpr; Gcdh^tm1Dmk/Gcdh^tm1Dmk
• Genetic Background: involves: 129S4/SvJae * C57BL/6N * FVB/N

behavior/neurological

lethargy ( J:256227 )

• 5 of 6 mice show lethargic behavior after 24 hours on a high-lysine diet

impaired coordination ( J:256227 )

• mice show increased time to transverse the balance beam

decreased locomotor activity ( J:256227 )

• decrease in locomotor activity

growth/size/body

weight loss ( J:256227 )

• all mice show critical weight loss 24 hours after the start of a 4.7% lysine diet

homeostasis/metabolism

abnormal amino acid metabolism ( J:256227 )

• 2-oxoadipate (2-OA) and 2-aminoadipic acid (2-AA) levels in the liver are increased in mice on a standard diet and further increased on a high lysine diet

• mice exhibit an increase in glutarylcarnitine and glutaric acid levels in the brain and liver, with a greater increase when fed a high-lysine diet