Type | Description |
---|---|
Definition | ryanodine receptor 1, skeletal muscle |
Date | Results | Publications |
---|---|---|
2021-03-13 13:17:00 | Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia. | 32826313 |
2021-01-16 15:54:00 | Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice. | 32499372 |
2020-11-21 13:28:00 | Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation. | 33037202 |
2020-03-14 11:57:00 | Ryr1TM/Indel mice exhibit a post-natal lethal recessive form of RYR1 RM that pheno-copies the severe congenital clinical presentation seen in a subgroup of RYR1 RM children. | 31107960 |
2020-03-14 10:06:00 | Our results demonstrate that the phenotype of the RyR1Q1970fsX16+A4329D compound heterozygous mice recapitulates the clinical picture of multiminicore patients and provide evidence of the molecular mechanisms responsible for skeletal muscle defects. | 31044239 |
Type | IDs |
---|---|
Synonymous | AI528790, RYR-1, Ryr, skrr |
Gene |
UniProtKB-ID:
RYR1_MOUSE,
A0A1L1SQG7_MOUSE
UniprotKB:
E9PZQ0,
A0A1L1SQG7
UniParc:
UPI0001335891,
UPI0003D72129
EMBL:
AY268935,
D21798,
BC055487,
BC051248,
D21796,
D21797,
AC165142,
AC164564,
D38216,
X83932,
U23754,
AJ308737
Ensembl:
ENSMUSG00000030592
KO:
mmu:20190
|
Nucleutide sequences |
EMBL-CDS:
AAH55487.1,
BAA04822.1,
BAA04821.1,
AAP29981.1,
BAA21010.1,
AAH51248.1,
CAC34624.1,
BAA07391.1,
AAA64955.1,
CAA58784.1
Ensembl_TRS:
ENSMUST00000179893,
ENSMUST00000214374
|
Protein sequencees |
Ensembl_PRO:
ENSMUSP00000137123,
ENSMUSP00000149042
RefSeq:
XP_036008712.1,
XP_036008711.1,
XP_036008707.1,
XP_036008709.1,
NP_033135.2,
XP_036008708.1,
XP_006539752.1,
XP_036008710.1
|
Others |
UniRef100:
UniRef100_E9PZQ0,
UniRef100_A0A1L1SQG7
UniRef90:
UniRef90_P11716
UniRef50:
UniRef50_P11716
UniGene:
Mm.439745
CCDS:
CCDS39866.1
|
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Refseq |
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