Phenotypes Associated with This Genotype

Genotype
MGI:3712780

• Allelic Composition: Tpmt^tm1Rlng/Tpmt^tm1Rlng
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6 * NMRI

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

mortality/aging

increased susceptibility to xenobiotic induced morbidity/mortality ( J:121737 )

• after 10 days treatment with mercaptopurine, mice did not survive as long as wild-type mice

reproductive system

reproductive system phenotype ( J:121737 )

N • mice are fertile

homeostasis/metabolism

abnormal nucleotide metabolism ( J:121737 )

• following thioguanine treatment, thioguanine nucleotide (TGN) levels are increased greater than in Tpmt^tm1Rlng heterozygotes and wild-type mice

• following mercaptopurine treatment, erythrocyte methylthioinosine monophosphate (MeTIMP) levels cannot be measured unlike in Tpmt^tm1Rlng heterozygotes and wild-type mice

increased susceptibility to xenobiotic induced morbidity/mortality ( J:121737 )

• after 10 days treatment with mercaptopurine, mice did not survive as long as wild-type mice

hematopoietic system

abnormal blood cell morphology/development ( J:121737 )

• after 10 days treatment with thioguanine, all complete blood count variables measured are more profoundly affected than in Tpmt^tm1Rlng heterozygotes

thrombocytosis ( J:121737 )

• after 10 days treatment with mercaptopurine, mice had a higher platelet count than wild-type mice

growth/size/body

weight loss ( J:121737 )

• after 10 days treatment with mercaptopurine, mice loss more weight than wild-type mice

• after 10 days treatment with thioguanine, mice lose more weight than Tpmt^tm1Rlng heterozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
thiopurine S-methyltransferase deficiency		DOID:0080172	OMIM:610460	J:121737