Phenotypes Associated with This Genotype

Genotype
MGI:3037288

• Allelic Composition: Sgcg^tm1Mcn/Sgcg^tm1Mcn
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

Stunted growth and abnormal stance in Sgcg^tm1Mcn/Sgcg^tm1Mcn mice

mortality/aging

premature death ( J:49871 )

• about 50% were dead by 5 months of age, 10% died by 3 weeks

behavior/neurological

behavior/neurological phenotype ( J:57664 )

N • responded well in swimming tests at 7 weeks of age

N • baseline activity levels improved after exercise

abnormal gait ( J:49871 )

• stiff walking gait with widened hind-leg spacing

decreased locomotor activity ( J:49871 )

• less activity in general but particularly climbing and burrowing

• slow to initiate walking or running activity from a sitting position

cardiovascular system

decreased heart weight ( J:49871 )

• heart mass is reduced but heart to body weight ratio is increased due to smaller body size

abnormal heart ventricle morphology ( J:49871 )

• fibrosis is present in ventricles

thick ventricular wall ( J:49871 )

• right and left ventricular walls are thickened by 20 weeks of age and the ventricular cavities nearly obliterated

coronary artery spasm ( J:88456 )

• microvascular filling defects are seen involving coronary arteries

• coronary vasospasms increase with exercise

growth/size/body

decreased body weight ( J:49871 , J:57664 )

• body weight was normal at 8 weeks but was low by 20 weeks (J:49871)

• weight gain improved when animals were forced to exercised (J:57664)

homeostasis/metabolism

increased circulating creatine kinase level ( J:49871 , J:57664 )

• elevated serum creatine kinase levels at 2 weeks to as much as 240X by 8 weeks of age (J:49871)

• levels of serum creatine kinase improved in animals forced to exercise (J:57664)

muscle

muscle phenotype ( J:57664 )

N • not susceptible to contraction induced injury

abnormal diaphragm morphology ( J:49871 )

• diaphragm muscle hypertrophied and opaque

thick diaphragm muscle ( J:49871 )

• although thickened, the diaphragm contains no more or larger myofibers

dystrophic muscle ( J:49871 )

• severe dystrophic changes seen

• variable fiber size

• inflammatory infiltrate

• abnormal calcification with fatty and fibrouse replacement

• changes seen in the quadriceps, and gastrocnemius where degenerate and intact muscle segments are juxtaposed in additon to the diaphragm

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2C		DOID:0110277	OMIM:253700	J:49871 , J:57664 , J:88456