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20190 Ryr1

20190

Ryr1

ryanodine receptor 1, skeletal muscle

protein-coding

Mus musculus

基因描述

Type Description
Definition ryanodine receptor 1, skeletal muscle

研究结论

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

名称对应

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

全选

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