Phenotypes Associated with This Genotype

Genotype
MGI:5298009

• Allelic Composition: Selenon^tm1.2Mred/Selenon^tm1.2Mred
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

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

muscle

abnormal skeletal muscle morphology ( J:176499 )

• under basal conditions, mice exhibit mild alterations in skeletal muscle morphology compared with wild-type mice

• following repeated forced swimming tests, muscles accumulate tubular aggregates unlike wild-type cells

decreased extensor digitorum longus weight ( J:176499 )

• following repeated forced swimming tests

decreased quadriceps weight ( J:176499 )

• following repeated forced swimming tests

decreased gastrocnemius weight ( J:176499 )

• following repeated forced swimming tests

decreased soleus weight ( J:176499 )

• following repeated forced swimming tests

decreased tibialis anterior weight ( J:176499 )

• under basal conditions at 3 and 10 months of age

• following repeated forced swimming tests

decreased skeletal muscle fiber size ( J:176499 )

• following repeated forced swimming tests, mice exhibit a switch towards slower and smaller fibers in paravertebral muscles compared with wild-type mice

• however, fiber type ratios are normal under basal conditions and in the quadriceps of mice subjected to repeated forced swimming tests

decreased skeletal muscle fiber diameter ( J:176499 )

• in the paravertebral muscles under basal conditions

centrally nucleated skeletal muscle fibers ( J:176499 )

• in one mouse subjected to repeated forced swimming tests

abnormal skeletal muscle fiber type ratio ( J:176499 )

• following repeated forced swimming tests, mice exhibit a switch towards slower and smaller fibers in paravertebral muscles compared with wild-type mice

• however, fiber type ratios are normal under basal conditions and in the quadriceps of mice subjected to repeated forced swimming tests

decreased skeletal muscle mass ( J:176499 )

• in the tibialis anterior, quadriceps, gastrocnemius, and extensor digitorum longus muscles following 1.5 months of repeated forced swimming tests, to a lesser extent in female mice

• however, diaphragm and heart weight is normal following repeated forced swimming tests

skeletal muscle atrophy ( J:176499 )

• in the tibialis anterior under basal conditions

• in one mouse subjected to repeated forced swimming tests

abnormal muscle physiology ( J:176499 )

• mild decrease in the absolute maximal titanic force under basal conditions

• after 4 to 6 weeks repeated forced swim activity, mice exhibit progressive rigidity of the trunk and limbs and a reduction in motility unlike wild-type mice

• however, mice subjected to daily forced swimming tests exhibit normal specific maximal force of the tibialis anterior and diaphragm as well as response to fatigue

growth/size/body

decreased susceptibility to weight gain ( J:176499 )

• following 1.5 and 3 months of repeated forced swimming tests

skeleton

kyphosis ( J:176499 )

• severe after 4 to 6 weeks daily swim activity, worsening with repeated forced swim training and age

limbs/digits/tail

decreased extensor digitorum longus weight ( J:176499 )

• following repeated forced swimming tests

decreased quadriceps weight ( J:176499 )

• following repeated forced swimming tests

decreased gastrocnemius weight ( J:176499 )

• following repeated forced swimming tests

decreased soleus weight ( J:176499 )

• following repeated forced swimming tests

decreased tibialis anterior weight ( J:176499 )

• under basal conditions at 3 and 10 months of age

• following repeated forced swimming tests

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
rigid spine muscular dystrophy 1		DOID:0110633	OMIM:602771	J:176499