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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 (9 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die around 5 to 6 weeks of age (J:146537)
• die around 5 to 6 weeks of age (J:146537)

growth/size/body
• from P15 (J:146537)
• from P15 (J:146537)

homeostasis/metabolism
• elevated levels of C4 and C5 acylcarnitines (J:146537)
• elevated levels of C4 and C5 acylcarnitines (J:146537)
• elevated levels of lactate (J:146537)
• elevated levels of lactate (J:146537)
• decreased urine levels of sulfate and increased urine levels of thiosulfates (J:146537)
• increased thiosulfate levels in the kidney and liver (J:146537)
• increased concentrations of hydrogen sulfide in the liver, muscle, and brain; levels in muscle are high enough to inhibit COX activity (J:146537)
• decreased urine levels of sulfate and increased urine levels of thiosulfates (J:146537)
• increased thiosulfate levels in the kidney and liver (J:146537)
• increased concentrations of hydrogen sulfide in the liver, muscle, and brain; levels in muscle are high enough to inhibit COX activity (J:146537)
• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates (J:146537)
• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates (J:146537)
• reduction in sulfide dependent oxygen consumption rate (J:146537)
• absence of glutathione-persulfide-dependent oxygen consumption in liver homogenates (J:146537)
• reduction in sulfide dependent oxygen consumption rate (J:146537)
• absence of glutathione-persulfide-dependent oxygen consumption in liver homogenates (J:146537)
• COX activity is reduced in muscle and luminal colonocytes but not in liver or cryptal colonocytes (J:146537)
• COX activity is reduced in muscle and luminal colonocytes but not in liver or cryptal colonocytes (J:146537)

behavior/neurological
• wide based gait (J:146537)
• wide based gait (J:146537)

renal/urinary system
• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates (J:146537)
• elevated levels of ethylmalonic acid and thiosulfates and decreased levels of sulfates (J:146537)

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
01/26/2016
MGI 6.02
The Jackson Laboratory