About   Help   FAQ
Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659
107 phenotypes from 16 alleles in 17 genetic backgrounds
Export: Excel File
Allelic Composition
Genetic Background		 Annotated Term Reference
Ryr1em1Tmur/Ryr1+
Not Specified 		abnormal body temperature homeostasis J:322211
abnormal muscle physiology J:322211
increased physiological sensitivity to xenobiotic J:322211
increased susceptibility to malignant hyperthermia J:322211
Ryr1em1Tmur/Ryr1em1Tmur
Not Specified 		lethality throughout fetal growth and development, complete penetrance J:322211
Ryr1em1Zor/Ryr1+
C57BL/6J-Ryr1em1Zor 		abnormal calcium ion homeostasis J:275501
abnormal skeletal muscle fiber triad morphology J:275501
decreased locomotor activity J:275501
normal embryo phenotype J:275501, J:292405
normal growth/size/body region phenotype J:275501, J:292405
normal muscle phenotype J:275501, J:291685
muscle weakness J:275501
skeletal muscle fiber degeneration J:275501
normal vision/eye phenotype J:291685
Ryr1em1Zor/Ryr1em2Zor
C57BL/6J-Ryr1em1Zor Ryr1em2Zor 		abnormal calcium ion homeostasis J:291685, J:292405
abnormal extraocular muscle morphology J:291685
abnormal muscle fiber morphology J:291685
abnormal skeletal muscle fiber mitochondrial morphology J:292405
abnormal skeletal muscle fiber morphology J:292405
abnormal skeletal muscle fiber triad morphology J:292405
decreased locomotor activity J:292405
decreased skeletal muscle weight J:292405
normal embryo phenotype J:292405
muscle weakness J:292405
skeletal muscle fiber degeneration J:292405
slow postnatal weight gain J:292405
normal vision/eye phenotype J:291685
Ryr1em2Zor/Ryr1+
C57BL/6J-Ryr1em2Zor 		embryo phenotype J:292405
growth/size/body region phenotype J:292405
muscle phenotype J:291685
vision/eye phenotype J:291685
Ryr1em2Zor/Ryr1em2Zor
C57BL/6J-Ryr1em2Zor 		muscle phenotype J:291685
vision/eye phenotype J:291685
Ryr1m1Bei/Ryr1m1Bei
involves: A/J * FVB/N 		abnormal skeletal muscle morphology J:75360
decreased body length J:75360
increased body weight J:75360
thin ribs J:75360
Ryr1m1Nisw/Ryr1+
129S1.B6-Ryr1m1Nisw 		abnormal mitochondrial physiology J:219285
abnormal mitochondrial shape J:219285
abnormal potassium ion homeostasis J:219285
abnormal sarcomere morphology J:219285
abnormal sarcoplasmic reticulum morphology J:219285
abnormal skeletal muscle fiber morphology J:219285
abnormal Z line morphology J:219285
centrally nucleated skeletal muscle fibers J:219285
decreased grip strength J:219285
increased circulating potassium level J:219285
muscle weakness J:219285
myopathy J:219285
Ryr1tm1.1Dhm/Ryr1+
involves: 129S2/SvPasCrl * 129S6/SvEvTac 		abnormal locomotor behavior J:155825
abnormal muscle fiber morphology J:155825
abnormal sarcomere morphology J:155825
abnormal skeletal muscle fiber morphology J:155825
abnormal Z line morphology J:155825
cyanosis J:155825
decreased body weight J:155825
decreased skeletal muscle fiber diameter J:155825
decreased total body fat amount J:155825
hindlimb paralysis J:155825
impaired muscle contractility J:155825
increased variability of skeletal muscle fiber size J:155825
kyphosis J:155825
muscle weakness J:155825
myopathy J:155825
respiratory distress J:155825
Ryr1tm1.1Dhm/Ryr1tm1.1Dhm
involves: 129S6/SvEvTac * 129X1/SvJ 		abnormal coronary artery morphology J:127629
abnormal dermal layer morphology J:127629
abnormal diaphragm morphology J:127629
abnormal interventricular groove morphology J:127629
abnormal muscle development J:127629
abnormal muscle physiology J:127629
abnormal posture J:127629
abnormal skin condition J:127629
abnormal thoracic cage shape J:127629
cleft secondary palate J:127629
cyanosis J:127629
decreased birth body size J:127629
decreased birth weight J:127629
decreased skeletal muscle mass J:127629
delayed bone ossification J:127629
delayed heart development J:127629
domed cranium J:127629
fetal growth retardation J:127629
impaired skeletal muscle contractility J:127629
increased brown adipose tissue amount J:127629
kyphosis J:127629
neonatal lethality, complete penetrance J:127629
ostium primum atrial septal defect J:127629
ostium secundum atrial septal defect J:127629
paralysis J:127629
skeletal muscle degeneration J:127629
skin edema J:127629
tight skin J:127629
translucent skin J:127629
underdeveloped hair follicles J:127629
unresponsive to tactile stimuli J:127629
Ryr1tm1.1Inp/Ryr1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal muscle physiology J:181523
abnormal physiological response to xenobiotic J:181523
increased core body temperature J:181523
increased susceptibility to malignant hyperthermia J:181523
Ryr1tm1.1Inp/Ryr1tm1.1Inp
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal muscle physiology J:181523
abnormal physiological response to xenobiotic J:181523
abnormal soleus morphology J:181523
acidemia J:181523
impaired muscle relaxation J:181523
increased core body temperature J:181523
increased susceptibility to malignant hyperthermia J:181523
Ryr1tm1.1Itl/?
B6.Cg-Ryr1tm1.1Itl 		abnormal muscle contractility J:176731
abnormal muscle physiology J:176731
abnormal skeletal muscle morphology J:176731
Ryr1tm1.1Msnr/Ryr1tm1.1Msnr
129S.129P2-Ryr1tm1.1Msnr 		abnormal muscle contractility J:195542
abnormal muscle electrophysiology J:195542
muscle tetany J:195542
muscle twitch J:195542
Ryr1tm1Alle/Ryr1tm1Alle
involves: 129S4/SvJae * C57BL/6 		abnormal cell physiology J:111187
Ryr1tm1b(EUCOMM)Hmgu/Ryr1+
C57BL/6N-Ryr1tm1b(EUCOMM)Hmgu/H 		increased respiratory quotient J:211773
increased spleen weight J:211773
Ryr1tm1b(EUCOMM)Hmgu/Ryr1tm1b(EUCOMM)Hmgu
C57BL/6N-Ryr1tm1b(EUCOMM)Hmgu/H 		preweaning lethality, complete penetrance J:211773
Ryr1tm1Slh/Ryr1+
involves: 129S7/SvEvBrd * C57BL/6 		abnormal body temperature homeostasis J:105738
abnormal muscle contractility J:105738
abnormal muscle physiology J:105738
enhanced behavioral response to xenobiotic J:105738
increased circulating potassium level J:105738
Ryr1tm1Slh/Ryr1tm1Slh
involves: 129S7/SvEvBrd * C57BL/6 		abnormal muscle physiology J:105738
abnormal rib morphology J:105738
abnormal skeletal muscle fiber morphology J:105738
abnormal skeletal muscle morphology J:105738
abnormal thoracic cage shape J:105738
edema J:105738
increased variability of skeletal muscle fiber size J:105738
kyphosis J:105738
omphalocele J:105738
pectus excavatum J:105738
perinatal lethality, complete penetrance J:105738
Ryr1tm1Tno/Ryr1tm1Tno
involves: 129S4/SvJae * C57BL/6J 		abnormal axial skeleton morphology J:18895
abnormal limb morphology J:18895
abnormal skeletal muscle fiber morphology J:18895
abnormal spine curvature J:18895
centrally nucleated skeletal muscle fibers J:18895
cyanosis J:18895
decreased skeletal muscle fiber number J:18895
decreased skeletal muscle fiber size J:18895
impaired skeletal muscle contractility J:18895
increased variability of skeletal muscle fiber size J:18895
neonatal lethality, complete penetrance J:18895
no spontaneous movement J:18895
respiratory failure J:18895
Ryr1tm2.1Alle/Ryr1+
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal calcium ion homeostasis J:168222
acidemia J:168222
hypercapnia J:168222
increased pulmonary respiratory rate J:168222
increased susceptibility to malignant hyperthermia J:168222
increased susceptibility to xenobiotic induced morbidity/mortality J:168222
Ryr1tm2.1Alle/Ryr1tm2.1Alle
involves: 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal calcium ion homeostasis J:168222
lethality throughout fetal growth and development, complete penetrance J:168222
Ryr1tm2.1Itl/?
B6.Cg-Ryr1tm2.1Itl 		abnormal muscle physiology J:205099
abnormal skeletal muscle fiber morphology J:205099
decreased grip strength J:205099
normal muscle phenotype J:205099
Ryr1tm3.1Alle/Ryr1+
involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal body temperature homeostasis J:303297
abnormal muscle physiology J:303297
increased physiological sensitivity to xenobiotic J:303297
increased susceptibility to induced morbidity/mortality J:303297
increased susceptibility to malignant hyperthermia J:303297
Ryr1tm3.1Alle/Ryr1tm3.1Alle
involves: 129 * 129S1/Sv * 129X1/SvJ * C57BL/6 		abnormal body temperature homeostasis J:303297
abnormal muscle physiology J:303297
increased physiological sensitivity to xenobiotic J:303297
increased susceptibility to induced morbidity/mortality J:303297
increased susceptibility to malignant hyperthermia J:303297
premature death J:303297
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory