Phenotypes Associated with This Genotype

Genotype
MGI:3699315

• Allelic Composition: Tymp^tm1Akiy/Tymp^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 but normal in all other tissues

abnormal nucleotide metabolism ( J:78036 )

• plasma thymidine levels elevated 2 fold over controls

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