|Institutional Source||Beutler Lab|
|Gene Name||ryanodine receptor 1, skeletal muscle|
|Synonyms||skrr, calcium release channel isoform 1, Ryr|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R9333 (G1)|
|Chromosomal Location||29003344-29125179 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to C at 29074789 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000149042 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032813] [ENSMUST00000179893] [ENSMUST00000214374]|
|AlphaFold||no structure available at present|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation and a similar ENU-induced mutation are born with a rounded body shape, edema, thin and misshapened ribs, and abnormal muscle fibers. Mutants die perinatally. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ryr1||
(F):5'- AGCGTCCTAGCAGGTCAATC -3'
(R):5'- TTCCCCAAGAGCTCTCCTGAAC -3'
(F):5'- GTCCTAGCAGGTCAATCAAGGC -3'
(R):5'- AAGAGCTCTCCTGAACTTTCTGGG -3'