Phenotypes Associated with This Genotype

Genotype
MGI:6268336

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

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

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