Phenotypes Associated with This Genotype

Genotype
MGI:5781308

• Allelic Composition: Magel2^tm1Stw/Magel2^tm1Stw
• Genetic Background: C57BL/6-Magel2^tm1Stw/J

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

adipose tissue

increased body fat mass ( J:233299 )

behavior/neurological

decreased grip strength ( J:233299 )

• hindlimb and forelimb grip strength is less than controls and declines with age

decreased vertical activity ( J:233299 )

• less vertical activity in light (42%) and dark (55%) cycles as compared to controls

decreased locomotor activity ( J:233299 )

• total distance travelled on progressive treadmill test is decreased as compared to controls in female mice and older male mice, 14 week old male mice perform similar to controls

cellular

abnormal autophagy ( J:233299 )

• altered autophagy in soleus muscle

• p62 levels in fed mice are higher than in fed controls, fasted levels are similar to control

growth/size/body

increased body fat mass ( J:233299 )

decreased lean body mass ( J:233299 )

obese ( J:233299 )

• both male and female mice are obese with more fat mass and less lean mass than controls

• body composition in females is more abnormal than in males and consists of 2.3 times more fat and 8% less lean mass than controls

mortality/aging

prenatal lethality, incomplete penetrance ( J:233299 )

• increased prenatal mortality as compared to controls

• early failure to thrive is observed

muscle

decreased skeletal muscle fiber size ( J:233299 )

• smaller muscle fibers in gastrocnemius

• fiber type redistribution is not observed

increased skeletal muscle fiber size ( J:233299 )

• larger muscle fibers in soleus as compared to control

• fiber type redistribution is not observed

decreased skeletal muscle weight ( J:233299 )

• reduction of total limb muscle weight to 87-93% of controls

• all individual muscle groups (gastrocnemius-soleus-plantaris, quadriceps, and tibialis anterior) are lighter than controls

skeletal muscle atrophy ( J:233299 )

respiratory system

respiratory system phenotype ( J:233299 )

N • respiratory deficiency is not observed in young mice (P2 and P18)

skeleton

scoliosis ( J:233299 )

• mild spinal curvature characterized by a upward rotation of the right aspect of skull and, in some mice, a right thoracic curve

homeostasis/metabolism

abnormal autophagy ( J:233299 )

• altered autophagy in soleus muscle

• p62 levels in fed mice are higher than in fed controls, fasted levels are similar to control

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Prader-Willi syndrome		DOID:11983	OMIM:176270	J:233299