IMPC phenotypes (gene matching)
STOCK Selenontm1.2Mred/Orl
| Status | Available to order |
| EMMA ID | EM:02138 |
| 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 |
|
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