Mouse Genome Informatics
hm
    Ethe1tm1.1Zev/Ethe1tm1.1Zev
involves: 129S7/SvEvBrd * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• die around 5 to 6 weeks of age

growth/size/body

homeostasis/metabolism
• elevated levels of lactate and C4 and C5 acylcarnitines
• 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 IDRef(s)
Encephalopathy, Ethylmalonic; EE 602473 J:146537