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Mammalian Phenotype Ontology Annotations
Query Results - Summary
calcium channel, voltage-dependent, L type, alpha 1S subunit
84 phenotypes from 4 alleles in 6 genetic backgrounds
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Allelic Composition
Genetic Background
Annotated Term Reference
involves: 129 * STOCK T/t4
abnormal muscle development J:15029
impaired muscle contractility J:7390, J:15029
involves: 129P1/ReJ * STOCK T/t4
abnormal diaphragm morphology J:6592
abnormal enzyme/coenzyme activity J:6592, J:34235
abnormal innervation pattern to muscle J:6592
abnormal muscle morphology J:6592
impaired skeletal muscle contractility J:5371
involves: STOCK T/t4
abnormal axial skeleton morphology J:4466
abnormal cartilage morphology J:4466
abnormal cervical vertebrae morphology J:4466
abnormal diaphragm morphology J:7295, J:7296
abnormal dorsal root ganglion morphology J:14970
abnormal fetal size J:14970
abnormal innervation pattern to muscle J:7295
abnormal joint morphology J:14970
abnormal mandible morphology J:4466
abnormal muscle development J:5576, J:14970
abnormal muscle fiber morphology J:7295, J:7296
abnormal muscle physiology J:641
abnormal phrenic nerve morphology J:7296
abnormal rib morphology J:4466, J:14970
abnormal sarcomere morphology J:18533
abnormal skeletal muscle fiber morphology J:4724, J:5283, J:18533
abnormal spinal cord ventral horn morphology J:14970
abnormal spine curvature J:14970
abnormal sternebra morphology J:4466
abnormal sternum morphology J:4466, J:14970
abnormal thoracic cavity morphology J:4466
abnormal tongue morphology J:4466
abnormal tongue muscle morphology J:14970
abnormal vertebral column morphology J:4466
abnormal Z line morphology J:5283, J:18533
absent deltoid tuberosity J:4466
absent skeletal muscle J:4466
cervical vertebral fusion J:4466
cleft secondary palate J:4466
decreased diameter of long bones J:4466
decreased skeletal muscle mass J:14970
decreased tongue size J:4466
dilated sarcoplasmic reticulum J:5283
edema J:4466, J:14970
enlarged interparietal bone J:4466
enlarged occipital bone J:4466
extremity edema J:4466, J:14970
impaired skeletal muscle contractility J:4724, J:18533
increased brown adipose tissue amount J:14970
kyphosis J:4466
limb grasping J:4466
long ribs J:4466
loose skin J:4466
micrognathia J:4466
muscle degeneration J:14970
no spontaneous movement J:14970
perinatal lethality, complete penetrance J:4466
short mandible J:4466, J:14970
short sternum J:4466
shortened head J:4466
small clavicle J:4466
small mandibular condyloid process J:4466
small mandibular coronoid process J:4466
small scapula J:4466
sternebra fusion J:4466
thin diaphragm muscle J:4466
thin ribs J:4466
thoracic vertebral fusion J:4466
decreased circulating glucose level J:211773
increased bone mineral content J:211773
abnormal embryo size J:211773
abnormal facial morphology J:211773
abnormal placenta vasculature J:211773
cyanosis J:211773
edema J:211773
hemorrhage J:211773
preweaning lethality, complete penetrance J:211773
respiratory system phenotype J:211773
involves: C57BL/6N
abnormal calcium ion homeostasis J:235534
abnormal enzyme/coenzyme activity J:235534
abnormal mitochondrial physiology J:235534
abnormal mitochondrion morphology J:235534
abnormal muscle electrophysiology J:235534
abnormal muscle physiology J:235534
abnormal skeletal muscle fiber type ratio J:235534
decreased aerobic running capacity J:235534
decreased grip strength J:235534
decreased mitochondria number J:235534
decreased mitochondria size J:235534
dilated mitochondria J:235534
impaired skeletal muscle contractility J:235534
normal muscle phenotype J:235534
involves: 129
abnormal muscle contractility J:193967
abnormal muscle physiology J:193967
decreased grip strength J:193967
dilated sarcoplasmic reticulum J:193967
involves: 129
abnormal muscle contractility J:193967
abnormal muscle physiology J:193967
centrally nucleated skeletal muscle fibers J:193967
dilated sarcoplasmic reticulum J:193967
myopathy J:193967

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.13
The Jackson Laboratory