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Phenotypes Associated with This Genotype
Genotype
MGI:5637428
Allelic
Composition
Polgtm1Prol/Polgtm1Prol
Genetic
Background
B6J.129S7-Polgtm1Prol
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Polgtm1Prol mutation (1 available); any Polg mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die by 15 months of age

hematopoietic system
• abnormal lymphoid development in aging mice
• 8-13 month old mice show defects in the generation of immature B/pre-B cells
• 8-13 month old mice show defects in the generation of pro-B cells
• decrease in the relative frequency of CD4/CD8 double-positive cells in 8-13 month old mice
• macrocytic anemia appears as early as 6 months of age and progressively worsens
• transplantation of mutant marrow into wild-type recipients recapitulates age-related macrocytic anemia, lymphopenia, and megaloblastic changes
• mice become lymphopenic by 8 months of age, involving both major lymphoid lineages
• however, mice do not develop leukocytosis or signs of leukemic conversion
• decrease in total viable thymocytes in 8-13 month old mice
• bone marrow of 8-13 month old mice shows a decrease in mature B cells
• 8-13 month old mice show defects in the generation of immature B/pre-B cells
• abnormal erythroid development in aging mice
• 8 month old mice exhibit an increase in the frequency of Ter119+ splenocytes, with a significant expansion in both polychromatophilic normoblasts and reticulocytes
• 10 month old splenocytes exhibit stress erythropoiesis, with a significant increase in frequency of polychromatophilic normoblasts
• in the bone marrow of 10 month old mice, an expansion of polychormatophilic normoblasts is seen at the expense of both reticulocytes and mature red blood cells
• 8 and 10 month old splenocytes and 10 month old bone marrow show an increase in the frequency of polychromatophilic normoblasts
• a population of erythroblasts characterized by intermediate cell size and low-to-negative expression of CD71 is expanded in the bone marrow of 10 month old mice; this population of orthochromic erythroblasts has abundant, fully hemoglobinized cytoplasm, indicating megoblastic morphologic changes
• from 6 to 10 months of age, hemoglobin levels are moderately decreased and from 11 months onward, hemoglobin levels rapidly decrease
• mean corpuscular volume of reticulocytes increases sharply from 8 months of age
• macrocytosis becomes evident after 8 months of age, shortly after development of anemia, and worsens with age

cellular
• as early as 4 months of age, a decreased cytochrome oxidase/citrate synthase ratio is seen in mitochondria of the spleen and this ratio is decreased in both spleen and liver mitochondria at 9-10 months of age, indicating mitochondrial dysfunction

endocrine/exocrine glands
• decrease in total viable thymocytes in 8-13 month old mice

immune system
• abnormal lymphoid development in aging mice
• 8-13 month old mice show defects in the generation of immature B/pre-B cells
• 8-13 month old mice show defects in the generation of pro-B cells
• decrease in the relative frequency of CD4/CD8 double-positive cells in 8-13 month old mice
• mice become lymphopenic by 8 months of age, involving both major lymphoid lineages
• however, mice do not develop leukocytosis or signs of leukemic conversion
• decrease in total viable thymocytes in 8-13 month old mice
• bone marrow of 8-13 month old mice shows a decrease in mature B cells
• 8-13 month old mice show defects in the generation of immature B/pre-B cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
myelodysplastic syndrome DOID:0050908 OMIM:614286
J:154187


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)
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last database update
12/03/2019
MGI 6.14
The Jackson Laboratory