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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Cacna2d2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
MGI:1929813
73 phenotypes from 8 alleles in 10 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Cacna2d2du-2J/Cacna2d2+
involves: C57BL/6 * C57BLKS/J 		abnormal CNS synaptic transmission J:213548
Cacna2d2du-2J/Cacna2d2du-2J
involves: C57BL/6 * C57BLKS/J 		abnormal CNS synaptic transmission J:213548
abnormal miniature inhibitory postsynaptic currents J:213548
absence seizures J:213548
ataxia J:213548
Cacna2d2du-2J/Cacna2d2du-2J
involves: C57BLKS/J-Cacna2d2du-2J/LetJ 		abnormal axon morphology J:116185
abnormal brain wave pattern J:70845
abnormal cerebellum morphology J:116185
abnormal involuntary movement J:70845
abnormal nervous system electrophysiology J:116185
abnormal Purkinje cell morphology J:116185
abnormal spike wave discharge J:70845
absence seizures J:70845
ataxia J:70845
decreased Purkinje cell size J:116185
normal nervous system phenotype J:70845
Cacna2d2du-3J/Cacna2d2du-3J
involves: BALB/cByJ * C57BL/6J 		abnormal motor coordination/balance J:82238
decreased body size J:82238
myoclonus J:82238
premature death J:82238
normal reproductive system phenotype J:82238
tremors J:82238
Cacna2d2du-td/Cacna2d2du-td
DBA/2J-Cacna2d2du-td 		abnormal motor capabilities/coordination/movement J:13433
lethargy J:13433
tremors J:13433
Cacna2d2du-td/Cacna2d2du-td
involves: DBA/2J 		abnormal pituitary gland morphology J:12166
abnormal thymus involution J:12166
absent corpus luteum J:12166
absent lactotrophs J:5596
postnatal growth retardation J:5596, J:12166
premature death J:12166
reduced female fertility J:5596
reduced fertility J:12166
Cacna2d2em1(IMPC)Mbp/Cacna2d2+
C57BL/6N-Cacna2d2em1(IMPC)Mbp/MbpMmucd 		abnormal kidney morphology J:211773
abnormal skin morphology J:211773
abnormal spleen morphology J:211773
abnormal testis morphology J:211773
abnormal vitreous body morphology J:211773
cataract J:211773
decreased total body fat amount J:211773
enlarged kidney J:211773
enlarged spleen J:211773
enlarged testis J:211773
increased lean body mass J:211773
increased spleen weight J:211773
no spontaneous movement J:211773
persistence of hyaloid vascular system J:211773
small kidney J:211773
Cacna2d2em1(IMPC)Mbp/Cacna2d2em1(IMPC)Mbp
C57BL/6N-Cacna2d2em1(IMPC)Mbp/MbpMmucd 		abnormal gait J:211773
abnormal heart morphology J:211773
abnormal placenta morphology J:211773
abnormal seminal vesicle morphology J:211773
abnormal spleen morphology J:211773
female infertility J:211773
no spontaneous movement J:211773
preweaning lethality, incomplete penetrance J:211773
small heart J:211773
small seminal vesicle J:211773
small spleen J:211773
tremors J:211773
Cacna2d2ent/Cacna2d2ent
either: B6.D2-Cacna2d2ent or (involves: C57BL/6J * CD-1 * DBA/2J) 		abnormal brain wave pattern J:88967
abnormal gait J:88967
abnormal locomotor behavior J:88967
abnormal neuron physiology J:88967
abnormal sexual interaction J:88967
abnormal uterus morphology J:88967
ataxia J:88967
behavioral arrest J:88967
decreased body size J:88967
decreased body weight J:88967
female infertility J:88967
normal nervous system phenotype J:88967
postnatal lethality, incomplete penetrance J:88967
seizures J:88967
Cacna2d2m1Btlr/Cacna2d2m1Btlr
C57BL/6J-Cacna2d2m1Btlr 		decreased body weight J:224663
Cacna2d2m1Mhda/Cacna2d2m1Mhda
C3HeB/FeJ-Cacna2d2m1Mhda 		no abnormal phenotype detected J:82809
Cacna2d2tm1Svi/Cacna2d2tm1Svi
involves: 129S1/Sv * C57BL/6J 		abnormal cerebellum morphology J:92396
abnormal eating behavior J:92396
abnormal heart rate J:92396
ataxia J:92396
cerebellum vermis hypoplasia J:92396
decreased body weight J:92396
decreased heart rate J:92396
dehydration J:92396
impaired coordination J:92396
increased susceptibility to pharmacologically induced seizures J:92396
limb grasping J:92396
myoclonus J:92396
postnatal growth retardation J:92396
premature death J:92396
Purkinje cell degeneration J:92396
rhinitis J:92396
seizures J:92396
thymus hypoplasia J:92396
tonic seizures J:92396
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09/03/2024
MGI 6.24 		The Jackson Laboratory