IMPC phenotypes (gene matching)
C57BL/6N-Ryr1tm1a(EUCOMM)Hmgu/H
| Status | Available to order |
| EMMA ID | EM:09656 |
| Citation information | RRID:IMSR_EM:09656 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 | C57BL/6N-Ryr1tm1a(EUCOMM)Hmgu/H |
| Alternative name | HEPD0727_2_D11 |
| Strain type | Targeted Mutant Strains |
| Allele/Transgene symbol | Ryr1tm1a(EUCOMM)Hmgu |
| Gene/Transgene symbol | Ryr1 |
| Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
| Provider | MRC, Medical Research Council |
| Provider affiliation | Mary Lyon Centre at MRC Harwell |
| Genetic information | This mouse line originates from EUCOMM ES clone HEPD0727_2_D11. For further details on the construction of this clone see the page at the IMPC portal. |
| Phenotypic information | Potential phenotyping data in the IMPC portal |
| References | None available |
Information from EMMA
| Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Lethal multiple pterygium syndrome / Orphanet_33108
- Congenital multicore myopathy with external ophthalmoplegia / Orphanet_98905
- Benign Samaritan congenital myopathy / Orphanet_324581
- Autosomal recessive centronuclear myopathy / Orphanet_169186
- Central core disease / Orphanet_597
- Malignant hyperthermia of anesthesia / Orphanet_423
- King-Denborough syndrome / Orphanet_99741
- Congenital myopathy with myasthenic-like onset / Orphanet_424107
- Moderate multiminicore disease with hand involvement / Orphanet_178145
MGI phenotypes (gene matching)
- increased brown adipose tissue amount / MGI
- delayed bone ossification / MGI
- abnormal rib morphology / MGI
- kyphosis / MGI
- underdeveloped hair follicles / MGI
- domed cranium / MGI
- abnormal muscle development / MGI
- impaired muscle contractility / MGI
- muscle weakness / MGI
- myopathy / MGI
- paralysis / MGI
- hindlimb paralysis / MGI
- abnormal skeletal muscle morphology / MGI
- abnormal skin condition / MGI
- tight skin / MGI
- translucent skin / MGI
- abnormal dermal layer morphology / MGI
- decreased body length / MGI
- increased body weight / MGI
- decreased body weight / MGI
- abnormal locomotor behavior / MGI
- no spontaneous movement / MGI
- unresponsive to tactile stimuli / MGI
- abnormal posture / MGI
- cyanosis / MGI
- abnormal body temperature homeostasis / MGI
- edema / MGI
- skin edema / MGI
- respiratory failure / MGI
- respiratory distress / MGI
- abnormal muscle physiology / MGI
- abnormal limb morphology / MGI
- abnormal axial skeleton morphology / MGI
- abnormal diaphragm morphology / MGI
- hypercapnia / MGI
- impaired skeletal muscle contractility / MGI
- acidemia / MGI
- omphalocele / MGI
- abnormal soleus morphology / MGI
- abnormal skeletal muscle fiber morphology / MGI
- impaired muscle relaxation / MGI
- abnormal interventricular groove morphology / MGI
- abnormal muscle fiber morphology / MGI
- abnormal sarcoplasmic reticulum morphology / MGI
- abnormal sarcomere morphology / MGI
- abnormal Z line morphology / MGI
- abnormal coronary artery morphology / MGI
- abnormal muscle electrophysiology / MGI
- abnormal spine curvature / MGI
- fetal growth retardation / MGI
- abnormal calcium ion homeostasis / MGI
- thin ribs / MGI
- decreased skeletal muscle mass / MGI
- increased pulmonary respiratory rate / MGI
- abnormal muscle contractility / MGI
- abnormal cell physiology / MGI
- increased circulating potassium level / MGI
- abnormal mitochondrial physiology / MGI
- abnormal physiological response to xenobiotic / MGI
- muscle tetany / MGI
- muscle twitch / MGI
- decreased skeletal muscle fiber size / MGI
- decreased skeletal muscle fiber diameter / MGI
- increased variability of skeletal muscle fiber size / MGI
- centrally nucleated skeletal muscle fibers / MGI
- decreased skeletal muscle fiber number / MGI
- skeletal muscle degeneration / MGI
- decreased birth weight / MGI
- decreased birth body size / MGI
- enhanced behavioral response to xenobiotic / MGI
- increased sensitivity to xenobiotic induced morbidity/mortality / MGI
- cleft secondary palate / MGI
- decreased total body fat amount / MGI
- decreased grip strength / MGI
- abnormal thoracic cage shape / MGI
- ostium primum atrial septal defect / MGI
- ostium secundum atrial septal defect / MGI
- increased core body temperature / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- abnormal mitochondrial shape / MGI
- abnormal potassium ion homeostasis / MGI
- delayed heart development / MGI
- pectus excavatum / MGI
- increased susceptiblity to malignant hyperthermia / MGI