IMPC phenotypes (gene matching)
C57BL/6N-Ryr1tm1a(EUCOMM)Hmgu/H
| Status | Available to order |
| EMMA ID | EM:09656 |
| 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