Phenotypes associated with this allele

• Allele Symbol: Sgcb^tm1Kcam
• Allele Name: targeted mutation 1, Kevin P Campbell
• Allele ID: MGI:2153048
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sgcb^tm1Kcam/Sgcb^tm1Kcam	involves: 129S1/Sv * 129X1/SvJ	MGI:3626292

Genotype
MGI:3626292

hm1

• Allelic Composition: Sgcb^tm1Kcam/Sgcb^tm1Kcam
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

muscle

cardiomyopathy ( J:60154 )

• homozygotes develop significant cardiomyopathy with extensive regions of necrosis, similar to morphological changes noted in tissue infarcts

abnormal muscle morphology ( J:60154 )

• homozygotes exhibit loss of the sarcoglycan-sarcospan complex, the dystroglycan complex, and epsilon-sarcoglycan in skeletal, cardiac, and smooth muscles

abnormal vascular smooth muscle morphology ( J:60154 )

• homozygotes display loss of the sarcoglycan-sarcospan complex in vascular smooth muscles leading to vascular perturbation, exaggeration of the muscular dystrophy and initiation of cardiomyopathy

myocardium necrosis ( J:60154 )

• as early as 9 weeks, mutant hearts display small necrotic areas

• at 20 weeks, focal necrotic areas resembling ischemic-like lesions are observed throughout the right and left ventricles; however, active myocardial necrosis is less prominent at 30 weeks

abnormal sarcolemma morphology ( J:60154 )

• at 9 weeks, homozygotes display uptake of Evans blue dye in various skeletal muscles, indicating compromised sarcolemma integrity

calcified muscle ( J:60154 )

• as early as 4 weeks, homozygotes exhibit progressive dystrophic calcification in the calf, thigh, and diaphragm muscles

dystrophic muscle ( J:60154 )

• as early as 4 weeks, homozygotes exhibit progressive dystrophic changes in calf, thigh, and diaphragm muscles including pronounced areas of focal necrosis, dystrophic calcification, endomysial fibrosis, massive fatty infiltration, extensive central nucleation, fiber splitting and hypertrophy

• consistent with severe muscular dystrophy, 13-16-wk-old homozygotes exhibit increased serum creatine kinase activity

muscular atrophy ( J:60154 )

cardiovascular system

abnormal blood vessel morphology ( J:60154 )

• at 4 weeks, vessels of the mutant heart and diaphragm display a serrated contour, rather than the smoothly tapered vessel walls observed in wild-type mice

abnormal vascular smooth muscle morphology ( J:60154 )

• homozygotes display loss of the sarcoglycan-sarcospan complex in vascular smooth muscles leading to vascular perturbation, exaggeration of the muscular dystrophy and initiation of cardiomyopathy

vascular stenosis ( J:60154 )

• homozygotes display numerous areas of vascular constrictions often associated with pre- and poststenotic aneurysms in the vasculature of diaphragm, heart, and kidneys

• vascular constrictions are detected prior to the onset of necrotic changes

myocardium necrosis ( J:60154 )

• as early as 9 weeks, mutant hearts display small necrotic areas

• at 20 weeks, focal necrotic areas resembling ischemic-like lesions are observed throughout the right and left ventricles; however, active myocardial necrosis is less prominent at 30 weeks

cardiac fibrosis ( J:60154 )

• at 30 weeks, mutant hearts exhibit widespread areas of fibrosis

aneurysm ( J:60154 )

• homozygotes exhibit multiple pre- and poststenotic aneurysms in vessels of the diaphragm, heart, and kidneys

cardiomyopathy ( J:60154 )

• homozygotes develop significant cardiomyopathy with extensive regions of necrosis, similar to morphological changes noted in tissue infarcts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive limb-girdle muscular dystrophy type 2E		DOID:0110279	OMIM:604286	J:60154