IMPC phenotypes (gene matching)
STOCK Selenontm1.2Mred/Orl
| Status | Available to order |
| EMMA ID | EM:02138 |
| Citation information | RRID:IMSR_EM:02138 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 | STOCK Selenontm1.2Mred/Orl |
| Alternative name | SEPN1 -/- (K51-326 L-) |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Selenontm1.2Mred |
| Gene/Transgene symbol | Selenon |
Information from provider
| Provider | Alain Lescure |
| Provider affiliation | CNRS - Universite Louis Pasteur |
| Genetic information | Deletion of the third exon by cre-induced recombination leading to a frameshift and premature stop of translation in exon 6. |
| Phenotypic information | Under investigation. No direct muscular defects observed, but possibly induced by sub-optimal vitamin E supply. |
| Breeding history | 1 backcross to C57BL/6J. |
| References |
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Information from EMMA
| Archiving centre | Institut de Transgenose, INTRAGENE, Orléans, France |
Disease and phenotype information
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- Classic multiminicore myopathy / Orphanet_324604
- Congenital fiber-type disproportion myopathy / Orphanet_2020
- Desmin-related myopathy with Mallory body-like inclusions / Orphanet_84132
- Rigid spine syndrome / Orphanet_97244
MGI phenotypes (allele matching)
- abnormal muscle regeneration / MGI
- abnormal muscle physiology / MGI
- decreased satellite cell number / MGI
- skeletal muscle atrophy / MGI
- kyphosis / MGI
- abnormal skeletal muscle morphology / MGI
- decreased skeletal muscle mass / MGI
- decreased skeletal muscle fiber size / MGI
- decreased skeletal muscle fiber diameter / MGI
- centrally nucleated skeletal muscle fibers / MGI
- abnormal skeletal muscle fiber type ratio / MGI
- decreased gastrocnemius weight / MGI
- decreased extensor digitorum longus weight / MGI
- decreased soleus weight / MGI
- decreased tibialis anterior weight / MGI
- decreased susceptibility to weight gain / MGI
- decreased quadriceps weight / MGI
MGI phenotypes (gene matching)
- kyphosis / MGI
- abnormal muscle regeneration / MGI
- abnormal skeletal muscle morphology / MGI
- abnormal lung development / MGI
- hypoactivity / MGI
- abnormal lung volume / MGI
- abnormal muscle physiology / MGI
- abnormal respiratory system physiology / MGI
- decreased vertical activity / MGI
- decreased satellite cell number / MGI
- vertebral fusion / MGI
- decreased skeletal muscle mass / MGI
- increased apoptosis / MGI
- decreased skeletal muscle fiber size / MGI
- decreased skeletal muscle fiber diameter / MGI
- centrally nucleated skeletal muscle fibers / MGI
- abnormal skeletal muscle fiber type ratio / MGI
- skeletal muscle atrophy / MGI
- decreased gastrocnemius weight / MGI
- decreased extensor digitorum longus weight / MGI
- decreased soleus weight / MGI
- decreased tibialis anterior weight / MGI
- skeletal muscle hypertrophy / MGI
- decreased susceptibility to weight gain / MGI
- decreased quadriceps weight / MGI
- increased lung compliance / MGI
- abnormal pulmonary alveolar sac morphology / MGI
- decreased lung elastance / MGI
- enhanced exercise endurance / MGI
Literature references
- Increased muscle stress-sensitivity induced by selenoprotein N inactivation in mouse: a mammalian model for SEPN1-related myopathy.;Rederstorff Mathieu, Castets Perrine, Arbogast Sandrine, Lainé Jeanne, Vassilopoulos Stéphane, Beuvin Maud, Dubourg Odile, Vignaud Alban, Ferry Arnaud, Krol Alain, Allamand Valérie, Guicheney Pascale, Ferreiro Ana, Lescure Alain, ;2011;PloS one;6;e23094; 21858002
- Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency.;Castets Perrine, Bertrand Anne T, Beuvin Maud, Ferry Arnaud, Le Grand Fabien, Castets Marie, Chazot Guillaume, Rederstorff Mathieu, Krol Alain, Lescure Alain, Romero Norma B, Guicheney Pascale, Allamand Valérie, ;2011;Human molecular genetics;20;694-704; 21131290
- Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.;Castets Perrine, Maugenre Svetlana, Gartioux Corine, Rederstorff Mathieu, Krol Alain, Lescure Alain, Tajbakhsh Shahragim, Allamand Valérie, Guicheney Pascale, ;2009;BMC developmental biology;9;46; 19698141