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 | Mammalian Genetics Unit, 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
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