Phenotypes Associated with This Genotype

Genotype
MGI:3829872

• Allelic Composition: Rptor^tm1Rueg/Rptor^tm1Rueg; Tg(ACTA1-cre)1Mll/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * SJL

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

mortality/aging

premature death ( J:143748 )

• mice begin to die at 110 days and none survives beyond 190 days unlike wild-type mice

muscle

abnormal muscle morphology ( J:143748 )

• muscles are pale compared to in wild-type mice

• muscles have few intermyofibrillar mitochondrial that are localized to the subsarcolemmal space, densely packed and swollen compared to in wild-type muscles

• the EDL and soleus exhibit increased expression of slow-twitch-specific markers

increased skeletal muscle glycogen level ( J:143748 )

decreased muscle weight ( J:143748 )

• at 90 and 140 days

skeletal muscle interstitial fibrosis ( J:143748 )

dystrophic muscle ( J:143748 )

• muscles exhibit signs of dystrophy including mononuclear cells, a high number of small and large muscle fibers, active de- and re-generation, and centralized nuclei unlike in wild-type muscle

• dystrophy is severe in the diaphragm

abnormal muscle physiology ( J:143748 )

• the soleus muscle exhibits characteristics (time to peak, half time to peak and relaxation time of the twitch) of slow muscles unlike in wild-type mice

• twitch force and maximal titanic absolute force for the EDL and soleus muscles are less than in wild-type muscles

• the EDL and soleus muscles are more resistant to fatigue than in wild-type mice

• muscles exhibit a reduction in aerobic capacity compared to in wild-type muscles

abnormal muscle cell glucose uptake ( J:143748 )

• slower than in wild-type muscles

homeostasis/metabolism

impaired exercise endurance ( J:143748 )

• mice run for shorter and less frequent bouts than wild type mice with decreased top running speeds

increased skeletal muscle glycogen level ( J:143748 )

growth/size/body

increased lean body mass ( J:143748 )

• mice appear lean

decreased body weight ( J:143748 )

• at 63 days of age

adipose tissue

decreased total body fat amount ( J:143748 )

• at 140 days

skeleton

kyphosis ( J:143748 )

• mice develop severe kyphosis beginning at 2 months of age unlike wild-type mice

behavior/neurological

impaired exercise endurance ( J:143748 )

• mice run for shorter and less frequent bouts than wild type mice with decreased top running speeds

cellular

abnormal muscle cell glucose uptake ( J:143748 )

• slower than in wild-type muscles