Phenotypes Associated with This Genotype

Genotype
MGI:3699317

• Allelic Composition: Tymp^tm1Akiy/Tymp^tm1Akiy; Upp1^tm1Akiy/Upp1^tm1Akiy
• Genetic Background: involves: 129X1/SvJ

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

homeostasis/metabolism

abnormal enzyme/coenzyme level ( J:78036 )

• thymidine phosphorylase activity reduced in the liver, small intestine and in other tissues

abnormal nucleotide metabolism ( J:78036 )

• plasma thymidine levels elevated 5 fold over controls

nervous system

brain inflammation ( J:78036 )

• increased leukoencephalopathy

abnormal brain morphology ( J:78036 )

• enlarged myelinated fibers in the brain

abnormal myelin sheath morphology ( J:78036 )

• abnormal myelin structure in enlarged myelined fibers of the brain

immune system

brain inflammation ( J:78036 )

• increased leukoencephalopathy

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	mitochondrial DNA depletion syndrome 1	DOID:0080119	OMIM:603041	J:78036