Phenotypes associated with this allele

• Allele Symbol: Gcdh^tm1Dmk
• Allele Name: targeted mutation 1, David M Koeller
• Allele ID: MGI:2182942
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gcdh^tm1Dmk/Gcdh^tm1Dmk	involves: 129S4/SvJae * C57BL/6J	MGI:2182958
hm2	Gcdh^tm1Dmk/Gcdh^tm1Dmk	involves: 129S4/SvJae * C57BL/6N * FVB/N	MGI:6268336
cx3	Dhtkd1^em1Hpr/Dhtkd1^em1Hpr Gcdh^tm1Dmk/Gcdh^tm1Dmk	involves: 129S4/SvJae * C57BL/6N * FVB/N	MGI:6268330

Genotype
MGI:2182958

hm1

• Allelic Composition: Gcdh^tm1Dmk/Gcdh^tm1Dmk
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

behavior/neurological

impaired righting response ( J:77874 )

• young mice have difficulty righting themselves when placed on their backs

impaired coordination ( J:77874 )

• impaired motor coordination demonstrated in a rotarod test and a balance beam test

homeostasis/metabolism

glutaricadicuria ( J:77874 )

• elevated glutaric acid levels and elevated 3-OH glutaric acid levels in urine

renal/urinary system

enlarged kidney ( J:77874 )

glutaricadicuria ( J:77874 )

• elevated glutaric acid levels and elevated 3-OH glutaric acid levels in urine

nervous system

neurodegeneration ( J:77874 )

• spongiform myelinopathy; maximal in frontal cortex; also in cerebellar white matter and hippocampus

growth/size/body

enlarged kidney ( J:77874 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glutaric acidemia I		DOID:0111254	OMIM:231670	J:77874

Genotype
MGI:6268336

hm2

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

behavior/neurological

lethargy ( J:256227 )

• 4 of 5 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 )

• 4 of 5 mice show critical weight loss of more than 15% 24 hours after the start of a 4.7% lysine diet

homeostasis/metabolism

abnormal amino acid metabolism ( J:256227 )

• mice exhibit an increase in glutaric acid levels in the brain and liver

• glutarylcarnitine level is increased in the liver in mice fed a standard diet and increased in the brain and liver of mice fed a high-lysine diet

• lysine diet increases 2-aminoadipic acid (2-AA) levels more than in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
glutaric acidemia I		DOID:0111254	OMIM:231670	J:256227

Genotype
MGI:6268330

cx3

• 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