Phenotypes Associated with This Genotype

Genotype
MGI:3838185

• Allelic Composition: Ethe1^tm1.1Zev/Ethe1^tm1.1Zev
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

premature death ( J:146537 )

• die around 5 to 6 weeks of age

growth/size/body

postnatal growth retardation ( J:146537 )

• from P15

homeostasis/metabolism

abnormal blood homeostasis ( J:146537 )

• elevated levels of C4 and C5 acylcarnitines

increased circulating lactate level ( J:146537 )

• elevated levels of lactate

abnormal mineral level ( J:146537 )

• decreased urine levels of sulfate and increased urine levels of thiosulfates

• increased thiosulfate levels in the kidney and liver

• increased concentrations of hydrogen sulfide in the liver, muscle, and brain; levels in muscle are high enough to inhibit COX activity

abnormal urine homeostasis ( J:146537 )

• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates

abnormal metabolism ( J:146537 )

• reduction in sulfide dependent oxygen consumption rate

• absence of glutathione-persulfide-dependent oxygen consumption in liver homogenates

abnormal enzyme/coenzyme activity ( J:146537 )

• COX activity is reduced in muscle and luminal colonocytes but not in liver or cryptal colonocytes

behavior/neurological

abnormal gait ( J:146537 )

• wide based gait

decreased locomotor activity ( J:146537 )

renal/urinary system

abnormal urine homeostasis ( J:146537 )

• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ethylmalonic encephalopathy		DOID:0060640	OMIM:602473	J:146537