Phenotypes Associated with This Genotype

Genotype
MGI:2182958

• 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