Phenotypes Associated with This Genotype

Genotype
MGI:5469973

• Allelic Composition: Scyl1^tm1.1Spel/Scyl1^tm1.1Spel
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

premature death ( J:192445 )

• severely affected mice are euthanized

muscle

increased variability of skeletal muscle fiber size ( J:192445 )

centrally nucleated skeletal muscle fibers ( J:192445 )

abnormal skeletal muscle fiber type ratio ( J:192445 )

• increased numbers of atrophic type I fibers

dystrophic muscle ( J:192445 )

• severity depends on affected muscle

muscular atrophy ( J:192445 )

• muscle wasting in posterior legs by 6 to 8 weeks

• widespread and conspicuous neurogenic atrophy in skeletal muscles with severity depending on affected muscle

nervous system

astrocytosis ( J:192445 )

• mild to moderate

microgliosis ( J:192445 )

• mild to moderate

abnormal motor neuron morphology ( J:192445 )

• cytoplasmic inclusions

decreased motor neuron number ( J:192445 )

motor neuron degeneration ( J:192445 )

demyelination ( J:192445 )

• fewer myelinated axons at 8 weeks especially large caliber axons

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:192445 )

• progressive motor dysfunction

• at 4 weeks, mice spend less time hanging from an inverted cage grid than wild-type mice

tremors ( J:192445 )

• by 6 weeks when suspended by tail

decreased grip strength ( J:192445 )

• at 4 weeks, mice spend less time hanging from an inverted cage grid than wild-type mice

abnormal locomotor coordination ( J:192445 )

• posterior waddle by 4 weeks

abnormal gait ( J:192445 )

• by 4 weeks

hindlimb paralysis ( J:192445 )

• at 8 to 20 weeks

skeleton

abnormal pelvic girdle bone morphology ( J:192445 )

• at 8 to 20 weeks, mice exhibit dorsoventral flattening of the pelvis

immune system

microgliosis ( J:192445 )

• mild to moderate

growth/size/body

decreased body weight ( J:192445 )

postnatal growth retardation ( J:192445 )

hematopoietic system

microgliosis ( J:192445 )

• mild to moderate

cellular

astrocytosis ( J:192445 )

• mild to moderate

microgliosis ( J:192445 )

• mild to moderate