IMPC phenotypes (gene matching)
B6.129-Sgcetm1Vinni Sgcatm1Kcam/Cnrm
| Status | Available to order |
| EMMA ID | EM:05841 |
| Citation information | RRID:IMSR_EM:05841 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.129-Sgcetm1Vinni Sgcatm1Kcam/Cnrm |
| Alternative name | SgcaSgcetm1Vinni Sgca/Sgce DKO |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Sgcatm1Kcam, Sgcetm1Vinni |
| Gene/Transgene symbol | Sgca, 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)
- 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
MGI phenotypes (gene matching)
- dystrophic muscle / MGI
- heart inflammation / MGI
- impaired skeletal muscle contractility / MGI
- abnormal skeletal muscle fiber morphology / MGI
- cardiac fibrosis / MGI
- calcified muscle / MGI
- increased muscle weight / MGI
- abnormal muscle fiber morphology / MGI
- abnormal sarcolemma morphology / MGI
- cardiomyopathy / MGI
- muscle phenotype / MGI
- homeostasis/metabolism 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
- myoclonus / MGI
- abnormal Purkinje cell morphology / MGI
- impaired coordination / MGI
- impaired balance / MGI
- maternal imprinting / MGI
- cardiovascular system phenotype / MGI
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