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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Cacna1d
calcium channel, voltage-dependent, L type, alpha 1D subunit
MGI:88293
55 phenotypes from 4 alleles in 5 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Cacna1dem1(IMPC)J/Cacna1dem1(IMPC)J
C57BL/6NJ-Cacna1dem1(IMPC)J/Mmjax 		preweaning lethality, complete penetrance J:211773
Cacna1dtm1Hgn/Cacna1dtm1Hgn
Egr2tm2(cre)Pch/Egr2+
involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ 		abnormal auditory brainstem response waveform shape J:185977
abnormal distortion product otoacoustic emission J:185977
abnormal pons morphology J:185977
decreased neuron number J:185977
increased or absent distortion product otoacoustic emission threshold J:185977
Cacna1dtm1Hssh/Cacna1d+
involves: 129S4/SvJae * C57BL/6J 		increased or absent threshold for auditory brainstem response J:118306
Cacna1dtm1Hssh/Cacna1dtm1Hssh
involves: 129S4/SvJae * C57BL/6J 		abnormal calcium ion homeostasis J:72316
abnormal cochlear outer hair cell physiology J:118306
abnormal pancreatic beta cell differentiation J:72316
abnormal pancreatic beta cell physiology J:72316
abnormal pancreatic islet morphology J:72316
absent distortion product otoacoustic emissions J:118306
absent outer hair cell stereocilia J:118306
absent pinna reflex J:72316, J:118306
cochlear ganglion degeneration J:118306
cochlear outer hair cell degeneration J:118306
deafness J:72316, J:118306
decreased body weight J:72316
decreased circulating insulin level J:72316
decreased insulin secretion J:72316
decreased pancreatic beta cell mass J:72316
decreased pancreatic beta cell number J:72316
decreased pancreatic beta cell proliferation J:72316
decreased pancreatic islet number J:72316
impaired glucose tolerance J:72316
increased insulin sensitivity J:72316
increased or absent threshold for auditory brainstem response J:72316, J:118306
increased pancreatic alpha cell number J:72316
Cacna1dtm1Jst/Cacna1dtm1Jst
B6.129S7-Cacna1dtm1Jst 		abnormal cochlear IHC afferent innervation pattern J:88205, J:108908, J:113161
abnormal cochlear IHC efferent innervation pattern J:88205, J:108908, J:113161
abnormal cochlear inner hair cell physiology J:88205, J:113161
abnormal cochlear nerve morphology J:85915
abnormal inner hair cell synaptic ribbon morphology J:113161
absent active-zone-anchored inner hair cell synaptic ribbon J:108908
absent pinna reflex J:85915, J:108908
normal behavior/neurological phenotype J:85915
cochlear ganglion degeneration J:108908, J:113161
cochlear hair cell degeneration J:108908
cochlear inner hair cell degeneration J:85915, J:108908, J:113161
cochlear outer hair cell degeneration J:108908
deafness J:108908
decreased body weight J:85915
normal homeostasis/metabolism phenotype J:85915
normal nervous system phenotype J:85915
sensorineural hearing loss J:108908
Cacna1dtm1Jst/Cacna1dtm1Jst
involves: 129S7/SvEvBrd * C57BL/6J 		abnormal action potential J:230439
abnormal calcium ion homeostasis J:63515
abnormal cochlear inner hair cell physiology J:63515, J:117764
abnormal cochlear outer hair cell physiology J:117764
abnormal distortion product otoacoustic emission J:117764
abnormal heart rate J:230439
abnormal myocardial fiber physiology J:230439
abnormal sinoatrial node conduction J:63515, J:230439
abnormal sinus arrhythmia J:63515
absent pinna reflex J:63515
atrial fibrillation J:230439
atrioventricular block J:63515, J:230439
cochlear ganglion degeneration J:63515
cochlear inner hair cell degeneration J:63515
cochlear outer hair cell degeneration J:63515, J:117764
deafness J:63515, J:117764
decreased heart rate J:63515
heart block J:230439
normal homeostasis/metabolism phenotype J:63515
increased heart rate J:230439
increased heart rate variability J:230439
increased or absent threshold for auditory brainstem response J:63515, J:117764
normal mortality/aging J:63515
prolonged PR interval J:63515, J:230439
prolonged RR interval J:63515
sensorineural hearing loss J:63515
sinus bradycardia J:230439
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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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12/10/2024
MGI 6.24 		The Jackson Laboratory