Phenotypes Associated with This Genotype

Genotype
MGI:6198662

• Allelic Composition: Gt(ROSA)26Sor^{tm1(CAG-MFN2*T105M)Dple}/Gt(ROSA)26Sor⁺; Tg(Nes-cre)1Kln/0
• Genetic Background: involves: C57BL/6 * SJL

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

behavior/neurological

short stride length ( J:251584 )

♂ • mice exhibit a decrease in hind limb footprint length that is similar to the pes cavus foot deformity in humans

cellular

decreased mitochondrial number ( J:251584 )

♂ • diminished number of mitochondria in peripheral nerve axons, with fewer mitochondria per tibial axon

♂ • however, no mitochondrial aggregation is seen

muscle

abnormal soleus morphology ( J:251584 )

♂ • soleus muscle shows evidence of peripheral satellite cell fusion with soleus muscle fibers

♂ • both small angulated myofibers and fiber grouping is absent in the soleus muscle

abnormal skeletal muscle fiber morphology ( J:251584 )

♂ • soleus muscle exhibits a decrease in sarcomeric actin immunostaining and disruption of the normal striatal mitochondrial organization

decreased skeletal muscle fiber diameter ( J:251584 )

♂ • fast muscle fiber diameter of the tibialis and slow/mixed muscle fiber diameter of the soleus are reduced

skeletal muscle fiber atrophy ( J:251584 )

♂ • fast muscle fiber atrophy in the anterior tibialis musculature

♂ • myofiber atrophy in soleus muscle

abnormal skeletal muscle fiber type ratio ( J:251584 )

♂ • conversion of slow to mixed slow/fast fibers

nervous system

nervous system phenotype ( J:251584 )

♂N • no abnormal myelination is seen and the number of myelinating axons, their diameters, and degree of myelination in sciatic nerve is normal

limbs/digits/tail

abnormal soleus morphology ( J:251584 )

♂ • soleus muscle shows evidence of peripheral satellite cell fusion with soleus muscle fibers

♂ • both small angulated myofibers and fiber grouping is absent in the soleus muscle

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Charcot-Marie-Tooth disease type 2A2A		DOID:0110155	OMIM:609260	J:251584