Phenotypes associated with this allele

• Allele Symbol: Del(16Hspa13-App)3Yah
• Allele Name: deletion, Chr 16, Yann Herault 3
• Allele ID: MGI:5519049
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Del(16Hspa13-App)3Yah/+	B6J.129P2-Del(16Hspa13-App)3Yah	MGI:5754859

Genotype
MGI:5754859

ht1

• Allelic Composition: Del(16Hspa13-App)3Yah/+
• Genetic Background: B6J.129P2-Del(16Hspa13-App)3Yah

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

Skeletal muscle abnormalities in Del(16Hspa13-App)3Yah/+ and Dp(16Hspa13-App)2Yah/0 mice

behavior/neurological

enhanced coordination ( J:223518 )

• mice show improved performance on the fixed and accelerating rotarod at 8 to 12 months of age, but not at 3 months, with an increase in latency to fall at fixed speed and falling off the accelerating rod at a higher speed than controls

• mice show improved motor coordination, making fewer errors when crossing a notched bar

decreased grip strength ( J:223518 )

• mice show decreased grip force immediately prior to releasing its grasp

increased locomotor activity ( J:223518 )

• mice show a slight increase in the distance traveled in the open field during the last 15 minutes of a 30 minute session, indicating a slight hyperactivity

• however, mice are able to run a similar distance as wild-type mice on a treadmill

cellular

increased mitochondrial DNA content ( J:223518 )

• increase in mitochondrial DNA content in muscles

abnormal cellular respiration ( J:223518 )

• increase in oxidative state and capacity of muscle

abnormal mitochondrial physiology ( J:223518 )

• tibialis anterioris muscle shows an increase in succinate dehydrogenase-stained fibers, indicating increased mitochondrial activity

• 26% decrease in mitochondrial ROS production under basal respiration with succinate due to a decrease of pH across the mitochondrial inner membrane however, no change is seen in membrane electrical potential

growth/size/body

decreased body weight ( J:223518 )

• adults weight about 10% less than wild-type mice, however weight at birth is normal

muscle

abnormal skeletal muscle morphology ( J:223518 )

• skeletal muscle shows areas with increased mitochondrial mass present between adjacent fibers and a few degenerative mitochondria

abnormal skeletal muscle fiber type ratio ( J:223518 )

• increase in the proportion of type I slow-twitch myofibers in the soleus

decreased skeletal muscle mass ( J:223518 )

abnormal muscle physiology ( J:223518 )

• tibialis anterioris muscle shows an increase in succinate dehydrogenase-stained fibers, indicating increased mitochondrial activity, but no change in the percentage of slow-twitch oxidative type I myofibers

• soleus muscle shows an increase in the number of oxidative fibers

• increase in oxidative state and capacity of muscle