- enlarged heart / IMPC
- abnormal eye morphology / IMPC
- abnormal spleen morphology / IMPC
- hydrocephalus / IMPC
- anophthalmia / IMPC
- abnormal heart morphology / IMPC
- process of degenerative change / IMPC
- abnormal optic disk morphology / IMPC
- vertebral fusion / IMPC
- decreased spleen weight / IMPC
- hyperactivity / IMPC
- decreased lean body mass / IMPC
- enlarged spleen / IMPC
- increased circulating cholesterol level / IMPC
- increased circulating HDL cholesterol level / IMPC
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 | Selenontm1.2Mred, Gulotm1Mae |
Gene/Transgene symbol | Selenon, 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
IMPC phenotypes (gene matching)
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)
- fragile skeleton / MGI
- decreased bone mineral density / MGI
- abnormal trabecular bone morphology / MGI
- decreased compact bone thickness / MGI
- abnormal vertebral body morphology / MGI
- decreased chondrocyte number / MGI
- decreased circulating HDL cholesterol level / MGI
- decreased circulating calcium level / MGI
- decreased circulating phosphate level / MGI
- decreased hematocrit / MGI
- gastrointestinal hemorrhage / MGI
- small spleen / MGI
- small thymus / MGI
- hindlimb paralysis / MGI
- weight loss / MGI
- decreased body size / MGI
- cataract / MGI
- abnormal retina morphology / MGI
- hypoactivity / MGI
- abnormal gait / MGI
- disheveled coat / MGI
- abnormal skeleton physiology / MGI
- anemia / MGI
- postnatal growth retardation / MGI
- hemorrhage / MGI
- premature death / MGI
- decreased erythrocyte cell number / MGI
- abnormal bone mineralization / MGI
- decreased circulating alkaline phosphatase level / MGI
- abnormal long bone epiphyseal plate morphology / MGI
- enlarged kidney / MGI
- increased vascular permeability / MGI
- rickets / MGI
- decreased circulating insulin-like growth factor I level / MGI
- increased circulating cholesterol level / MGI
- increased brain size / MGI
- liver/biliary system phenotype / MGI
- cardiovascular system phenotype / MGI
- reproductive system phenotype / MGI
- decreased mean corpuscular hemoglobin / MGI
- abnormal osteoclast differentiation / MGI
- slow postnatal weight gain / MGI
- abnormal aorta elastic tissue morphology / MGI
- abnormal aorta endothelium morphology / MGI
- abnormal aorta smooth muscle morphology / MGI
- abnormal vitamin C level / MGI
- femur fracture / MGI
- rachitic rosary / MGI
- 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
- 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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