About   Help   FAQ
Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Cacna1s
calcium channel, voltage-dependent, L type, alpha 1S subunit
MGI:88294
84 phenotypes from 4 alleles in 6 genetic backgrounds
Export: Excel File
Allelic Composition
Genetic Background		 Annotated Term Reference
Cacna1smdg/Cacna1smdg
involves: 129 * STOCK T/t4 		abnormal muscle development J:15029
impaired muscle contractility J:7390, J:15029
Cacna1smdg/Cacna1smdg
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
Cacna1smdg/Cacna1smdg
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
Cacna1stm1.1(KOMP)Vlcg/Cacna1s+
B6N(Cg)-Cacna1stm1.1(KOMP)Vlcg/J 		decreased circulating glucose level J:211773
Cacna1stm1.1(KOMP)Vlcg/Cacna1stm1.1(KOMP)Vlcg
B6N(Cg)-Cacna1stm1.1(KOMP)Vlcg/J 		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
unresponsive to tactile stimuli J:211773
Cacna1stm1.1Arte/Cacna1stm1.1Arte
involves: C57BL/6N 		abnormal calcium ion homeostasis J:235534
abnormal enzyme/coenzyme activity J:235534
abnormal mitochondrial physiology J:235534
abnormal muscle electrophysiology J:235534
abnormal muscle physiology J:235534
abnormal skeletal muscle fiber mitochondrial morphology J:235534
abnormal skeletal muscle fiber type ratio J:235534
decreased aerobic running capacity J:235534
decreased grip strength J:235534
decreased mitochondrial number J:235534
decreased mitochondrial size J:235534
dilated mitochondrion J:235534
impaired skeletal muscle contractility J:235534
normal muscle phenotype J:235534
Cacna1stm1.1Cann/Cacna1s+
involves: 129 		abnormal muscle contractility J:193967
abnormal muscle physiology J:193967
decreased grip strength J:193967
dilated sarcoplasmic reticulum J:193967
Cacna1stm1.1Cann/Cacna1stm1.1Cann
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
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
11/12/2024
MGI 6.24 		The Jackson Laboratory