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Phenotypes Associated with This Genotype
Genotype
MGI:3830854
Allelic
Composition
Tymptm1Mihi/Tymptm1Mihi
Upp1tm1Gp/Upp1tm1Gp
Genetic
Background
involves: 129 * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tymptm1Mihi mutation (0 available); any Tymp mutation (32 available)
Upp1tm1Gp mutation (2 available); any Upp1 mutation (41 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• brain white matter contains multiple vacuoles in the subcortical, periventricular, internal capsule and cerebellar white matter unlike in wild-type mice
• vacuoles are larger and more abundant in the cerebellum
• at 22 months, mice exhibit an increase in T2 signal on an MRI in the cerebral white matter, an indication of leukoencephalopathy
• older mice exhibit vacuoles in the basal ganglia unlike in wild-type mice
• older mice exhibit vacuoles in the dentate nuclei unlike in wild-type mice
• brain white matter contains multiple vacuoles in the subcortical, periventricular, internal capsule and cerebellar white matter unlike in wild-type mice

cellular
• mitochondrial DNA in the brain is reduced 27% compared to in wild-type mice
• depletion of mtDNA is more severe in older mice
• the mitochondrial respiratory chain is deficient in the brain with 30% less complex I and IV activities compared to in wild-type mice

homeostasis/metabolism
• thymidine phosphorylase activity is decreased in the liver and undetectable in the brain, heart, lung, muscle, spleen, small intestine, and kidney unlike in wild-type mice
• mice exhibit an increase in thymidine and deoxyuridine in the brain, lung, spleen, kidney, heart, muscle, small intestine and liver compared to in wild-type mice
• mitochondrial nucleotide pools in the liver and brain are unbalanced with increased deoxythymidine triphosphate in both organs and increased deoxycytidine triphosphate in the brain compared to in wild-type mice

skeleton
• at 5 months of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mitochondrial DNA depletion syndrome 1 DOID:0080119 OMIM:603041
J:144245


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/05/2019
MGI 6.13
The Jackson Laboratory