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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID
Ryr1
ryanodine receptor 1, skeletal muscle
MGI:99659
93 phenotypes from 14 alleles in 14 genetic backgrounds
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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
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

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory