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Phenotypes Associated with This Genotype
Genotype
MGI:3838185
Allelic
Composition
Ethe1tm1.1Zev/Ethe1tm1.1Zev
Genetic
Background
involves: 129S7/SvEvBrd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ethe1tm1.1Zev mutation (0 available); any Ethe1 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die around 5 to 6 weeks of age

growth/size/body

homeostasis/metabolism
• elevated levels of C4 and C5 acylcarnitines
• elevated levels of lactate
• 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
• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates
• reduction in sulfide dependent oxygen consumption rate
• absence of glutathione-persulfide-dependent oxygen consumption in liver homogenates
• COX activity is reduced in muscle and luminal colonocytes but not in liver or cryptal colonocytes

behavior/neurological
• wide based gait

renal/urinary system
• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates

Mouse Models of Human Disease
OMIM ID Ref(s)
Encephalopathy, Ethylmalonic; EE 602473 J:146537


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/19/2016
MGI 6.04
The Jackson Laboratory