- 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
STOCK Selenontm1.2Mred Gulotm1Mae/Cnrm
Status | Available to order |
EMMA ID | EM:11938 |
International strain name | STOCK Selenontm1.2Mred Gulotm1Mae/Cnrm |
Alternative name | SEPN1, GULO |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Gulotm1Mae, |
Gene/Transgene symbol | Gulo |
Information from provider
Provider | Ester Zito |
Provider affiliation | Istituto di Ricerche Farmacologiche Mario Negri |
Genetic information | The strain that we want to freeze is a compound mutant for Sepn1 mutation and gulonolactone oxidase mutation. |
Phenotypic information | Homozygous:The compound Sepn1, Gulo KO mice show a myopathic phenotype at low concentration of ascorbic acid.Heterozygous:The heterozygous mutant does not show an over muscle phenotype. |
References |
|
Homozygous fertile | yes |
Homozygous viable | yes |
Homozygous matings required | no |
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
- 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)
Literature references
- Endoplasmic Reticulum Oxidative Stress Triggers Tgf-Beta-Dependent Muscle Dysfunction by Accelerating Ascorbic Acid Turnover.;Pozzer Diego, Favellato Mariagrazia, Bolis Marco, Invernizzi Roberto William, Solagna Francesca, Blaauw Bert, Zito Ester, ;2017;Scientific reports;7;40993; 28106121
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