Phenotypes Associated with This Genotype

Genotype
MGI:5811553

• Allelic Composition: Pus1^tm1.1Mdf/Pus1^tm1.1Mdf
• Genetic Background: B6.129S7(C)-Pus1^tm1.1Mdf

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

behavior/neurological

impaired exercise endurance ( J:237107 )

• mice fatigue more quickly in exercise treadmill test exhibiting a 46% decrease in run-to-fatigue time

• no difference in grip strength or rotorod speed/time as compared to controls

cellular

decreased mitochondrial size ( J:237107 )

• mitochondria are reduced in size in skeletal muscle, but not liver

• 45% reduction in mitochondrial density

• 33% reduction in average mitochondrial size

• increase in number of very small mitochondria

growth/size/body

slow postnatal weight gain ( J:237107 )

• females and males have a reduced body weight as compared to wild-type mice at 7 and 14 weeks of age, respectively, however, no significant difference is observed at later ages

homeostasis/metabolism

impaired exercise endurance ( J:237107 )

• mice fatigue more quickly in exercise treadmill test exhibiting a 46% decrease in run-to-fatigue time

• no difference in grip strength or rotorod speed/time as compared to controls

muscle

decreased skeletal muscle fiber size ( J:237107 )

• 24% increase in mean cross-sectional myofiber area in the tibialis anterior muscle

• however, there are no changes in percentage of extracellular matrix area or centralized nuclei

• increase is only observed in myosin heavy chain IIB expressing fibers

decreased skeletal muscle mass ( J:237107 )

• females exhibit decreased muscle mass and a smaller gastrocnemius to body weight ratio at 7 weeks of age, however, by 14 weeks there is no significant difference

abnormal muscle physiology ( J:237107 )

• 38% decrease in high succinate dehydrogenase (SDH) activity myofibers

• reduction in oxidative capacity of myofibers

• 63% reduction in cytochrome c oxidase activity in red gastrocnemius muscle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
myopathy, lactic acidosis, and sideroblastic anemia		DOID:0080099		J:237107