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Phenotypes Associated with This Genotype
Genotype
MGI:5902139
Allelic
Composition
mt-Nd6m1Jbst
mt-Tam1Jbst
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6NCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
mt-Nd6m1Jbst mutation (1 available); any mt-Nd6 mutation (1 available)
mt-Tam1Jbst mutation (1 available); any mt-Ta mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
muscle

reproductive system
• no individuals are detected with more than 80% of mitochondria harboring the mutation without an increase in embryo death

growth/size/body
• in male, but not female, mice
• in female and male mice, especially at high mutation levels
• in male, but not female, mice
• in male, but not female, mice

cellular
• cells exhibit a selection against high mutation levels in proliferating tissues
• impaired mitochondrial translation
• defective in cells from a variety of tissues
• defective at 20 weeks in epithelial cells of colonic crypts
• defective at 40 weeks or older in smooth muscle surrounding the colon with greater than 60% of the nutation and occasionally in cardiomyocytes
• impaired mitochondrial translation

cardiovascular system
• in female and male mice, especially at high mutation levels

adipose tissue
• in male, but not female, mice

homeostasis/metabolism
• impaired mitochondrial translation

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
mitochondrial metabolism disease DOID:700 J:238994


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
12/10/2024
MGI 6.24
The Jackson Laboratory