Cacna1c Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
MGI:103013

61 phenotypes from 14 alleles in 13 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Cacna1c^em1(IMPC)Mbp/Cacna1c⁺ C57BL/6N-Cacna1c^em1(IMPC)Mbp/MbpMmucd	abnormal caudal vertebrae morphology	J:211773
	abnormal kidney morphology	J:211773
	abnormal liver morphology	J:211773
	abnormal placenta morphology	J:211773
	decreased locomotor activity	J:211773
	increased freezing behavior	J:211773
	small kidney	J:211773
	small liver	J:211773
Cacna1c^em1(IMPC)Mbp/Cacna1c^em1(IMPC)Mbp C57BL/6N-Cacna1c^em1(IMPC)Mbp/MbpMmucd	prenatal lethality prior to heart atrial septation	J:211773
	preweaning lethality, complete penetrance	J:211773
Cacna1c^tm1.1Knt/Cacna1c^tm1.1Knt involves: 129 * C57BL/6J	abnormal learning/memory/conditioning	J:159698
	normal behavior/neurological phenotype	J:159698
	increased chemical nociceptive threshold	J:159698
Cacna1c^tm1.1Wac/Cacna1c^tm1.1Wac involves: C57BL/6	abnormal cardiac muscle contractility	J:203057
	abnormal muscle electrophysiology	J:203057
	abnormal myocardial fiber physiology	J:203057
	cardiac hypertrophy	J:203057
	decreased aerobic running capacity	J:203057
	decreased cardiac muscle contractility	J:203057
	increased myocardial fiber size	J:203057
	normal reproductive system phenotype	J:203057
Cacna1c^tm1Dgen/Cacna1c⁺ involves: 129P2/OlaHsd * C57BL/6	decreased locomotor activity	J:101679
	impaired coordination	J:101679
	increased thigmotaxis	J:101679
Cacna1c^tm1Dgen/Cacna1c^tm1Dgen involves: 129P2/OlaHsd * C57BL/6	preweaning lethality, complete penetrance	J:101679
Cacna1c^tm1Ggm/Cacna1c^tm1Ggm A1cf^{Tg(Myh6-cre/Esr1)1Jmk}/A1cf⁺ involves: 129S1/Sv 129X1/SvJ * FVB/N	decreased cardiac muscle contractility	J:189406
	dilated heart ventricle	J:189406
	premature death	J:189406
Cacna1c^tm1Ggm/Cacna1c^tm1Ggm Tg(Camk2a-cre)1557Sva/0 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * FVB	abnormal long-term spatial reference memory	J:189578
Cacna1c^tm1Hfm/Cacna1c^tm1Hfm involves: 129S1/Sv * 129X1/SvJ * C57BL/6	abnormal embryonic tissue morphology	J:66242
	lethality throughout fetal growth and development, complete penetrance	J:66242
Cacna1c^tm1Itl/Cacna1c^tm1Itl B6.129S6-Cacna1c^tm1Itl	abnormal myocardial fiber physiology	J:171162
	abnormal neuron physiology	J:171157
	cardiac hypertrophy	J:171162
	congestive heart failure	J:171162
	heart right ventricle hypertrophy	J:171162
	increased heart weight	J:171162
	increased myocardial fiber size	J:171162
	internal hemorrhage	J:171162
	lethality throughout fetal growth and development, incomplete penetrance	J:171162
	neonatal lethality, complete penetrance	J:171162
	patent ductus arteriosus	J:171162
Cacna1c^tm1Jst/Cacna1c^tm1Jst involves: 129S1/Sv * 129X1/SvJ * C57BL/6J	abnormal CNS synaptic transmission	J:91092
	abnormal motor capabilities/coordination/movement	J:91092
	abnormal myocardial fiber physiology	J:91092
	abnormal nervous system physiology	J:91092
	behavioral despair	J:91092
Cacna1c^tm2.1Wac/Cacna1c^tm2.1Wac involves: C57BL/6	abnormal calcium ion homeostasis	J:216746
	abnormal fetal cardiomyocyte physiology	J:216746
	abnormal myocardial fiber physiology	J:216746
	cardiac hypertrophy	J:216746
	decreased aerobic running capacity	J:216746
	decreased calcium uptake by cardiac muscle	J:216746
	decreased cardiac muscle contractility	J:216746
	increased heart weight	J:216746
Cacna1c^tm2Hfm/Cacna1c^tm2Hfm involves: 129S1/Sv * 129X1/SvJ * C57BL/6	abnormal embryonic tissue morphology	J:66242
	lethality throughout fetal growth and development, complete penetrance	J:66242
Cacna1c^tm2Itl/Cacna1c⁺ involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	abnormal social investigation	J:176442
	normal behavior/neurological phenotype	J:176442
	decreased exploration in new environment	J:176442
	decreased vocalization	J:176442
	enhanced contextual conditioning behavior	J:176442
	enhanced cued conditioning behavior	J:176442
	increased stereotypic behavior	J:176442
	postnatal lethality, complete penetrance	J:176442
Cacna1c^tm2Itl/Cacna1c⁺ involves: 129S6/SvEvTac * C57BL/6NTac	abnormal brain morphology	J:201506
	dermatitis	J:201506
	enlarged lateral ventricles	J:201506
	excessive scratching	J:201506
	premature death	J:201506
Cacna1c^tm2Itl/Cacna1c^tm2Itl involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac	postnatal lethality, complete penetrance	J:176442
Cacna1c^tm3Hfm/Cacna1c^tm3Hfm Tg(Ins2-cre)25Mgn/0 involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA	abnormal pancreatic beta cell physiology	J:84919
	decreased circulating insulin level	J:84919
	decreased insulin secretion	J:84919
	impaired glucose tolerance	J:84919
	increased circulating glucose level	J:84919
Cacna1c^tm3Hfm/Cacna1c^tm4Hfm A1cf^{Tg(Myh6-cre/Esr1)1Jmk}/A1cf⁺ involves: 129S1/Sv 129X1/SvJ * C57BL/6 * FVB/N	abnormal muscle electrophysiology	J:175463
	premature death	J:175463
Cacna1c^tm5.1Hfm/Cacna1c^tm5.1Hfm involves: 129S1/Sv * 129X1/SvJ * C57BL/6	abnormal myocardial fiber physiology	J:176723
	decreased heart rate	J:176723
	irregular heartbeat	J:176723
	postnatal lethality, complete penetrance	J:176723

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