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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
MGI:109482
130 phenotypes from 31 alleles in 45 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Cacna1aem1(IMPC)H/Cacna1a+
C57BL/6NTac-Cacna1aem1(IMPC)H/H 		increased freezing behavior J:211773
Cacna1aem1(IMPC)H/Cacna1aem1(IMPC)H
C57BL/6NTac-Cacna1aem1(IMPC)H/H 		preweaning lethality, incomplete penetrance J:211773
Cacna1aem1Andm/Cacna1aem1Andm
C57BL/6J-Cacna1aem1Andm 		ataxia J:338850
Cacna1am1Btlr/Cacna1am1Btlr
C57BL/6J-Cacna1am1Btlr 		impaired balance J:267668
impaired coordination J:267668
Cacna1arkr/Cacna1arkr
B6.Cg-Cacna1arkr 		abnormal gait J:71860
abnormal locomotor coordination J:71860
abnormal Purkinje cell dendrite morphology J:71860
absence seizures J:71860
ataxia J:71860
tremors J:71860
Cacna1asmrl/Cacna1asmrl
CXB10/HiAJ-Cacna1asmrl/GrsrJ 		abnormal motor coordination/balance J:198844
abnormal survival J:198844
ataxia J:198844
decreased litter size J:198844
decreased survivor rate J:198844
impaired balance J:198844
impaired limb coordination J:198844
impaired righting response J:198844
neonatal lethality, incomplete penetrance J:198844
perinatal lethality, incomplete penetrance J:198844
normal vision/eye phenotype J:198844
Cacna1atg-4J/Cacna1atg-4J
B6.C3Bir-Cacna1atg-4J 		abnormal motor capabilities/coordination/movement J:137816
abnormal nervous system electrophysiology J:137816
abnormal Purkinje cell axon morphology J:137816
abnormal Purkinje cell dendrite morphology J:137816
absence seizures J:137816
ataxia J:137816
decreased Purkinje cell size J:137816
Cacna1aTg-5J/Cacna1a+
B10.Cg-Cacna1aTg-5J 		abnormal axon morphology J:137816
abnormal nervous system electrophysiology J:137816
abnormal Purkinje cell dendrite morphology J:137816
abnormal Purkinje cell morphology J:137816
ataxia J:137816
Cacna1aTg-5J/Cacna1a+
Tg(Pvalb-EGFP)B20Zjh/?
involves: BALB/cByJ * C57BL/6 * C57BL/10J 		abnormal Purkinje cell morphology J:137816
Cacna1aTg-5J/Cacna1aTg-5J
B10.Cg-Cacna1aTg-5J 		preweaning lethality, complete penetrance J:137816
Cacna1aTg-5J/Cacna1aTg-5J
involves: BALB/cByJ * C57BL/10J 		ataxia J:137816
decreased body size J:137816
premature death J:137816
preweaning lethality, incomplete penetrance J:137816
Cacna1atg-6J/Cacna1atg-6J
involves: BALB/cByJ * C57BL/6J 		abnormal spleen red pulp morphology J:82238
decreased body size J:82238
decreased bone marrow cell number J:82238
impaired limb coordination J:82238
limb grasping J:82238
thymus atrophy J:82238
Cacna1aTg-7J/Cacna1a+
involves: 129P2/OlaHsd * C57BL/6J 		abnormal gait J:161271
ataxia J:161271
Cacna1atg-la/Cacna1a+
involves: AKR/J * C3H/HeJ * C57BL/6J 		normal behavior/neurological phenotype J:119639
Cacna1atg-la/Cacna1atg-la
B6.Cg-Os +/+ Cacna1atg-la/J 		abnormal action potential J:72853
abnormal channel response J:72853
abnormal nerve fiber response J:72853
decreased nerve fiber response intensity J:72853
decreased thermal nociceptive threshold J:72853
hyporesponsive to tactile stimuli J:72853
normal nervous system phenotype J:72853
Cacna1atg-la/Cacna1aWb
involves: AKR/J * C3H/HeJ * C57BL/6J 		ataxia J:119639
decreased grip strength J:119639
dystonia J:119639
impaired coordination J:119639
Cacna1atg-rol/Cacna1a+
involves: C3Hf/Nga * C57BL/6 * SIII 		abnormal glucose homeostasis J:3611
abnormal nervous system physiology J:3611
Cacna1atg-rol/Cacna1atg-rol
involves: C3Hf/Nga * C57BL/6 * SIII 		abnormal glucose homeostasis J:3611
abnormal nervous system physiology J:3611
decreased body weight J:3611
increased noradrenaline level J:164122
small cerebellum J:164122
Cacna1atg-rol/Cacna1atg-rol
involves: C57BL/6 * SIII 		abnormal brainstem morphology J:6553
abnormal cerebellum morphology J:12735, J:107924
abnormal CNS synaptic transmission J:109231
abnormal excitatory postsynaptic currents J:109231
abnormal metabolism J:15508
abnormal miniature excitatory postsynaptic currents J:109231
abnormal muscle electrophysiology J:164115
abnormal nursing J:12735
abnormal response/metabolism to endogenous compounds J:15508
ataxia J:12735, J:109231
cerebellum atrophy J:107924
cerebellum hypoplasia J:15016
decreased choline O-acetyltransferase activity J:6553
decreased glutamic acid level J:6553
enhanced paired-pulse facilitation J:109231
impaired limb coordination J:12735
increased apoptosis J:107924
increased brain tyrosine 3-monooxygenase activity J:6553
increased glycine level J:6553
increased taurine level J:6553
normal mortality/aging J:15016
muscle weakness J:164115
prolonged excitatory postsynaptic current decay time J:164115
reduced female fertility J:12735
reduced male fertility J:12735
small cerebellum J:6553
weakness J:12735
Cacna1atg-rol/Cacna1atg
involves: C3H * C57BL/6 * DBA/2J * SIII 		abnormal gait J:14882
abnormal locomotor behavior J:14882
abnormal nervous system morphology J:14882
ataxia J:14882
normal behavior/neurological phenotype J:14882
normal mortality/aging J:14882
Cacna1atg/Cacna1atg
B6.D2-Cacna1atg/J 		abnormal gait J:6154
abnormal muscle electrophysiology J:233263
abnormal nervous system electrophysiology J:6154
abnormal paired-pulse inhibition J:109231
ataxia J:109231
decreased body weight J:6154
decreased excitatory postsynaptic current amplitude J:109231
dystonia J:233263
increased susceptibility to pharmacologically induced seizures J:6154
seizures J:6154
Cacna1atg/Cacna1atg
involves: 101 * C3H * C57BL/10 * DBA/2J 		abnormal gait J:262
abnormal maternal nurturing J:262
abnormal motor capabilities/coordination/movement J:262
abnormal posture J:262
impaired limb coordination J:262
impaired swimming J:262
reduced fertility J:262
seizures J:262
sporadic seizures J:262
Cacna1atg/Cacna1atg
involves: C57BL/6J * DBA/2J 		abnormal CNS synaptic transmission J:106959
abnormal nervous system physiology J:221681
abnormal somatosensory cortex physiology J:221681
abnormal synaptic transmission J:221681
Cacna1atg/Cacna1atg
involves: DBA/2J 		abnormal gait J:262
infertility J:262
Cacna1atg/Cacna1atg
involves: DBA/2J * C57BL/10JGn 		abnormal gait J:262
Cacna1atg/Cacna1atm2.1Maag
involves: 129P2/OlaHsd * C57BL/6J * DBA/2J * FVB/N 		abnormal muscle electrophysiology J:233263
dystonia J:233263
Cacna1atg/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6J * DBA/2J * FVB/N 		dystonia J:233263
Cacna1atm1.1Ehess/Cacna1atm1.1Ehess
C57BL/6-Cacna1atm1.1Ehess 		abnormal channel response J:217557
normal behavior/neurological phenotype J:217557
Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Atoh1-cre/Esr1*)14Fsh/0
involves: 129P2/OlaHsd * C57BL/6 * FVB/N 		normal behavior/neurological phenotype J:217557
Cacna1atm1.1Ehess/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6 		normal behavior/neurological phenotype J:217557
Cacna1atm1.1Sher/Cacna1atm1.1Sher
involves: 129S4/SvJae 		no abnormal phenotype detected J:170451
Cacna1atm1.1Sher/Cacna1atm1.1Sher
Tg(Pcp2-cre)2Mpin/0
involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ 		abnormal action potential J:170451
abnormal channel response J:170451
abnormal inhibitory postsynaptic currents J:170451
abnormal seizure response to inducing agent J:170451
abnormal spike wave discharge J:170451
absence seizures J:170451
ataxia J:170451
decreased body weight J:170451
decreased grip strength J:170451
environmentally induced seizures J:170451
impaired coordination J:170451
small cerebellum J:170451
thin cerebellar granule layer J:170451
thin cerebellar molecular layer J:170451
Cacna1atm1.2Sher/Cacna1atm1.2Sher
involves: 129S4/SvJae 		abnormal inhibitory postsynaptic currents J:170451
ataxia J:170451
decreased body size J:170451
premature death J:170451
seizures J:170451
Cacna1atm1Fcr/Cacna1atm1Fcr
involves: 129S1/Sv * C57BL/6J 		abnormal brain morphology J:76459
abnormal motor capabilities/coordination/movement J:76459
abnormal nervous system physiology J:76459
abnormal postnatal growth/weight/body size J:76459
premature death J:76459
Cacna1atm1Hssh/Cacna1atm1Hssh
involves: 129 * C57BL/6J 		abnormal axon morphology J:59076
abnormal cerebellum external granule cell layer morphology J:59076
abnormal channel response J:59076
abnormal excitatory postsynaptic potential J:59076
abnormal neuron morphology J:59076
ataxia J:59076
decreased body size J:59076
impaired balance J:59076
impaired righting response J:59076
muscle spasm J:59076
premature death J:59076
small cerebellum J:59076
Cacna1atm1Hssh/Cacna1atm1Hssh
involves: C57BL/6J 		abnormal brain wave pattern J:59076
abnormal channel response J:59076
abnormal CNS synaptic transmission J:59076
abnormal spike wave discharge J:59076
Cacna1atm1Hssh/Cacna1atm1Hssh
Not Specified 		abnormal excitatory postsynaptic currents J:173318
abnormal synapse morphology J:173318
Cacna1atm1Hzo/Cacna1atm1Hzo
involves: 129S/SvEv 		abnormal channel response J:139488
normal behavior/neurological phenotype J:139488
Cacna1atm1Kano/Cacna1atm1Kano
Grid2tm1(cre)Mwa/Grid2+
involves: C57BL/6 * C57BL/6N 		abnormal CNS synaptic transmission J:173318
abnormal excitatory postsynaptic currents J:173318
abnormal neuron morphology J:173318
prolonged excitatory postsynaptic current decay time J:173318
prolonged excitatory postsynaptic current rise time J:173318
Cacna1atm1Kano/Cacna1atm1Kano
Grid2tm1(cre)Mwa/Grid2+
involves: C57BL/6N 		abnormal cerebellar molecular layer J:180582
abnormal excitatory postsynaptic current amplitude J:180582
abnormal Purkinje cell dendrite morphology J:180582
abnormal Purkinje cell morphology J:180582
increased neurotransmitter release J:180582
Purkinje cell degeneration J:180582
small cerebellum J:180582
Cacna1atm1Kano/Cacna1atm1Kano
Grin2ctm2(icre)Mwa/Grin2c+
involves: C57BL/6N 		normal nervous system phenotype J:180582
Cacna1atm1Lory/Cacna1a+
involves: C57BL/6 * C57BL/6J 		abnormal action potential J:258570
abnormal cerebellar molecular layer J:258570
abnormal excitatory postsynaptic currents J:258570
abnormal Purkinje cell dendrite morphology J:258570
abnormal Purkinje cell innervation J:258570
abnormal synapse morphology J:258570
absence seizures J:258570
ataxia J:258570
decreased excitatory postsynaptic current amplitude J:258570
decreased grip strength J:258570
decreased locomotor activity J:258570
decreased vertical activity J:258570
impaired coordination J:258570
increased cerebellar granule cell number J:258570
increased excitatory postsynaptic current amplitude J:258570
Cacna1atm1Lory/Cacna1atm1Lory
involves: C57BL/6 * C57BL/6J 		postnatal lethality, complete penetrance J:258570
Cacna1atm1Maag/Cacna1a+
B6.129P2-Cacna1atm1Maag 		abnormal nervous system electrophysiology J:144701
abnormal physiological response to xenobiotic J:144701
Cacna1atm1Maag/Cacna1atm1Maag
B6.129P2-Cacna1atm1Maag 		abnormal nervous system electrophysiology J:144701
abnormal physiological response to xenobiotic J:144701
abnormal posture J:144701
circling J:144701
enhanced behavioral response to xenobiotic J:144701
hemiplegia J:144701
increased cerebral infarct size J:193793
increased susceptibility to ischemic brain injury J:193793
Cacna1atm1Maag/Cacna1atm1Maag
involves: 129P2/OlaHsd * C57BL/6J 		abnormal channel response J:88693
abnormal CNS synaptic transmission J:88693
abnormal miniature endplate potential J:88693
abnormal PNS synaptic transmission J:88693
abnormal synaptic acetylcholine release J:88693
Cacna1atm1Nobs/Cacna1atm1Nobs
involves: 129 * C57BL/6J 		abnormal motor capabilities/coordination/movement J:155607
ataxia J:155607
premature death J:155607
Cacna1atm1Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J 		abnormal motor capabilities/coordination/movement J:155607
absence seizures J:155607
ataxia J:155607
postnatal lethality, complete penetrance J:155607
Cacna1atm2(CACNA1A)Ttan/Cacna1atm2(CACNA1A)Ttan
involves: 129S4/SvJae 		lethality at weaning, complete penetrance J:123243
Cacna1atm2.1(CACNA1A)Ttan/Cacna1atm2.1(CACNA1A)Ttan
involves: 129S4/SvJae * C57BL/6 * C57BL/6J * SJL 		ataxia J:123243
dystonia J:123243
lethality at weaning, complete penetrance J:123243
Cacna1atm2.1Maag/Cacna1atm2.1Maag
involves: 129P2/OlaHsd 		no abnormal phenotype detected J:117062
Cacna1atm2.1Maag/Cacna1atm2.1Maag
Tg(Pcp2-cre)2Mpin/0
involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ 		abnormal brain interneuron morphology J:234599
abnormal cerebellar granule cell morphology J:234599
abnormal cerebellar molecular layer J:234599
abnormal cerebellum morphology J:234599
ataxia J:234599
impaired balance J:234599
impaired coordination J:234599
impaired righting response J:234599
Purkinje cell degeneration J:234599
tremors J:234599
Cacna1atm2.1Maag/Cacna1atm2.2Maag
Tg(EIIa-cre)C5379Lmgd/0
involves: 129P2/OlaHsd * FVB/N 		abnormal synaptic acetylcholine release J:117062
ataxia J:117062
decreased body size J:117062
decreased neurotransmitter release J:117062
dystonia J:117062
lethality at weaning, complete penetrance J:117062
Cacna1atm2Hzo/Cacna1atm2Hzo
involves: 129S/SvEv 		abnormal channel response J:139488
normal behavior/neurological phenotype J:139488
Cacna1atm2Nobs/Cacna1atm2Nobs
involves: 129 * C57BL/6J 		abnormal spike wave discharge J:155607
absence seizures J:155607
ataxia J:155607
cerebellum atrophy J:155607
clonic seizures J:155607
impaired coordination J:155607
normal mortality/aging J:155607
Cacna1atm3Hzo/Cacna1a+
involves: 129S/SvEv * C57BL/6J 		impaired coordination J:139488
Cacna1atm3Hzo/Cacna1atm3Hzo
B6.129S7-Cacna1atm3Hzo/J 		impaired balance J:239981
impaired coordination J:239981
Purkinje cell degeneration J:239981
thin cerebellar molecular layer J:239981
Cacna1atm3Hzo/Cacna1atm3Hzo
involves: 129S/SvEv 		abnormal channel response J:139488
abnormal neuron morphology J:139488
abnormal Purkinje cell morphology J:190729
decreased locomotor activity J:139488
disheveled coat J:139488
impaired coordination J:139488
normal nervous system phenotype J:139488
Cacna1atm3Maag/Cacna1a+
B6.129P2-Cacna1atm3Maag 		abnormal nervous system electrophysiology J:144701
abnormal physiological response to xenobiotic J:144701
enhanced behavioral response to xenobiotic J:144701
Cacna1atm3Maag/Cacna1a+
involves: 129P2/OlaHsd 		increased cerebral infarct size J:193793
increased susceptibility to induced morbidity/mortality J:193793
increased susceptibility to ischemic brain injury J:193793
Cacna1atm3Maag/Cacna1atm3Maag
B6.129P2-Cacna1atm3Maag 		abnormal nervous system electrophysiology J:144701
abnormal physiological response to xenobiotic J:144701
abnormal posture J:144701
circling J:144701
enhanced behavioral response to xenobiotic J:144701
hemiplegia J:144701
impaired coordination J:144701
increased susceptibility to xenobiotic induced morbidity/mortality J:144701
respiratory failure J:144701
seizures J:144701
Cacna1atm3Maag/Cacna1atm3Maag
involves: 129P2/OlaHsd 		increased cerebral infarct size J:193793
increased susceptibility to induced morbidity/mortality J:193793
increased susceptibility to ischemic brain injury J:193793
Cacna1aWb/Cacna1a+
either: C3.B6-Cacna1aWb or (involves: C3H/HeJ * C57BL/6J) 		ataxia J:119639
normal behavior/neurological phenotype J:119639
cerebellum atrophy J:119639
decreased locomotor activity J:119639
normal growth/size/body region phenotype J:119639
impaired coordination J:119639
normal mortality/aging J:119639
normal nervous system phenotype J:119639
thin cerebellar molecular layer J:119639
Cacna1aWb/Cacna1aWb
either: C3.B6-Cacna1aWb or (involves: C3H/HeJ * C57BL/6J) 		ataxia J:119639
normal behavior/neurological phenotype J:119639
cerebellum atrophy J:119639
decreased body size J:119639
decreased grip strength J:119639
dystonia J:119639
impaired coordination J:119639
impaired righting response J:119639
normal nervous system phenotype J:119639
premature death J:119639
thin cerebellar molecular layer J:119639
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10/29/2024
MGI 6.24 		The Jackson Laboratory