Phenotypes Associated with This Genotype

Genotype
MGI:7614800

• Allelic Composition: mt-Tl1^m1Jiha
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

cellular

abnormal mitochondrial crista morphology ( J:344247 )

• loss of cristae structure in the liver and soleus muscle of high percentage mice, but not in the brain or kidneys

decreased mitochondrial size ( J:344247 )

• accumulation of small mitochondria in tissues from high percentage mice

abnormal mitochondrial physiology ( J:344247 )

• accumulation of RNA19 in liver tissue from mice carrying a high percentage of mitochondria carrying the mutation indicating a defect in intra-mitochondrial translation

• levels of MT-ND1 protein in livers are reduced in liver tissues from high percentage mice

• decrease in Complex I level and activity in tissues from high percentage mice

• loss of Complex IV activity in some cells in tissues from high percentage mice

muscle

abnormal muscle fiber morphology ( J:344247 )

• increase in lipid droplets that directly contact mitochondria in soleus muscle fibers from high percentage mice

homeostasis/metabolism

decreased blood urea nitrogen level ( J:344247 )

• in high percentage mice

increased circulating lactate level ( J:344247 )

• in high percentage mice at 10 months of age but not at 3 months of age

increased circulating triglyceride level ( J:344247 )

• in high percentage mice

increased circulating alanine transaminase level ( J:344247 )

• in high percentage mice at 10 months of age

abnormal glucose homeostasis ( J:344247 )

increased circulating glucose level ( J:344247 )

• in high percentage mice at 10 months of age but not at 3 months of age

increased circulating insulin level ( J:344247 )

• in high percentage mice at 10 months of age but not at 3 months of age

impaired glucose tolerance ( J:344247 )

• in high percentage mice at 10 months of age but not at 3 months of age

insulin resistance ( J:344247 )

• in high percentage mice at 10 months of age but not at 3 months of age

growth/size/body

increased body weight ( J:344247 )

• in high percentage mice at 10 months of age but not at 3 months of age

liver/biliary system

hepatic steatosis ( J:344247 )

• in high percentage mice

abnormal liver physiology ( J:344247 )

• accumulation of RNA19 in liver tissue from mice carrying a high percentage of mitochondria carrying the mutation indicating a defect in intra-mitochondrial translation

• levels of MT-ND1 protein in livers are reduced in liver tissues from high percentage mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
MELAS syndrome		DOID:3687	OMIM:540000	J:344247