STOCK Selenontm1.2Mred Gulotm1Mae/Cnrm

Status

Available to order

EMMA IDEM:11938
Citation informationRRID:IMSR_EM:11938 

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International strain nameSTOCK Selenontm1.2Mred Gulotm1Mae/Cnrm
Alternative nameSEPN1, GULO
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolSelenontm1.2Mred, Gulotm1Mae
Gene/Transgene symbolSelenon, Gulo

Information from provider

ProviderEster Zito
Provider affiliationIstituto di Ricerche Farmacologiche Mario Negri
Genetic informationThe strain that we want to freeze is a compound mutant for Sepn1 mutation and gulonolactone oxidase mutation.
Phenotypic informationHomozygous:
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
  • 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
Homozygous fertileyes
Homozygous viableyes
Homozygous matings requiredno
Immunocompromisedno

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

IMPC phenotypes (gene matching)
  • 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
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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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

  • Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740*
  • Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740*
  • Rederivation of mice from frozen stock, delivery time available upon request . €3880*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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