About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Upp1tm1Akiy
targeted mutation 1, Shin-ichi Akiyama
MGI:3699164
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Upp1tm1Akiy/Upp1tm1Akiy Not Specified MGI:3699316
cx2
 		Tymptm1Akiy/Tymptm1Akiy
Upp1tm1Akiy/Upp1tm1Akiy 		involves: 129X1/SvJ MGI:3699317


Genotype
MGI:3699316
hm1
Allelic
Composition		 Upp1tm1Akiy/Upp1tm1Akiy
Genetic
Background		 Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Upp1tm1Akiy mutation (0 available); any Upp1 mutation (66 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
homeostasis/metabolism
abnormal enzyme/coenzyme level ( J:78036 )
• thymidine phosphorylase activity inhibited in most tissues but not in the liver
abnormal nucleotide metabolism ( J:78036 )
• plasma thymidine levels elevated 2 fold over controls




Genotype
MGI:3699317
cx2
Allelic
Composition		 Tymptm1Akiy/Tymptm1Akiy
Upp1tm1Akiy/Upp1tm1Akiy
Genetic
Background		 involves: 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tymptm1Akiy mutation (0 available); any Tymp mutation (37 available)
Upp1tm1Akiy mutation (0 available); any Upp1 mutation (66 available)
♀ 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




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory