- dystrophic muscle / MGI
- heart inflammation / MGI
- abnormal skeletal muscle fiber morphology / MGI
- cardiac fibrosis / MGI
- calcified muscle / MGI
- abnormal muscle fiber morphology / MGI
- abnormal sarcolemma morphology / MGI
- cardiomyopathy / MGI
- muscle phenotype / MGI
- abnormal muscle contractility / MGI
- centrally nucleated skeletal muscle fibers / MGI
- increased extensor digitorum longus weight / MGI
- increased soleus weight / MGI
- increased circulating creatine kinase level / MGI
- abnormal circulating pyruvate kinase level / MGI
- cardiac muscle necrosis / MGI
- cardiovascular system phenotype / MGI
B6.129-Sgcetm1Vinni Sgcatm1Kcam/Cnrm
Status | Available to order |
EMMA ID | EM:05841 |
International strain name | B6.129-Sgcetm1Vinni Sgcatm1Kcam/Cnrm |
Alternative name | SgcaSgcetm1Vinni Sgca/Sgce DKO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Sgcetm1Vinni, |
Gene/Transgene symbol | Sgce |
Information from provider
Provider | Vincenzo Nigro |
Provider affiliation | TIGEM |
Genetic information | To understand the role of epsilon-SG in skeletal and cardiac muscle, we engineered an Sgce-null mouse. In addition, to investigate the impact of the concomitant loss of alpha- and epsilon-SG, we generated an Sgca/Sgce null mouse that lacks SGs. |
Phenotypic information | The Sgca/Sgce null mouse developed a progressive muscular dystrophy and a more anticipated and severe cardiomyopathy. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | yes |
Immunocompromised | no |
Information from EMMA
Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 / Orphanet_62
- Myoclonus-dystonia syndrome / Orphanet_36899
MGI phenotypes (allele matching)
Literature references
- Combined deficiency of alpha and epsilon sarcoglycan disrupts the cardiac dystrophin complex.;Lancioni Alessio, Rotundo Ida Luisa, Kobayashi Yvonne Monique, D'Orsi Luca, Aurino Stefania, Nigro Gerardo, Piluso Giulio, Acampora Dario, Cacciottolo Mafalda, Campbell Kevin P, Nigro Vincenzo, ;2011;Human molecular genetics;20;4644-54; 21890494
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