- abnormal kidney morphology / IMPC
- abnormal testis morphology / IMPC
- small seminal vesicle / IMPC
- abnormal spleen morphology / IMPC
- small kidney / IMPC
- tremors / IMPC
- abnormal skin morphology / IMPC
- small heart / IMPC
- enlarged spleen / IMPC
- increased lean body mass / IMPC
- preweaning lethality, incomplete penetrance / IMPC
- no spontaneous movement / IMPC
- persistence of hyaloid vascular system / IMPC
- enlarged kidney / IMPC
- abnormal gait / IMPC
- abnormal vitreous body morphology / IMPC
- cataract / IMPC
- abnormal placenta morphology / IMPC
- female infertility / IMPC
- increased spleen weight / IMPC
- abnormal heart morphology / IMPC
- enlarged testis / IMPC
- decreased total body fat amount / IMPC
- abnormal seminal vesicle morphology / IMPC
- small spleen / IMPC
B6.D2(Cg)-Cacna2d2ent/Ieg
| Status | Available to order |
| EMMA ID | EM:01818 |
| Citation information | RRID:IMSR_EM:01818 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6.D2(Cg)-Cacna2d2ent/Ieg |
| Alternative name | Cacna2d2 entla |
| Strain type | Spontaneous |
| Allele/Transgene symbol | Cacna2d2ent |
| Gene/Transgene symbol | Cacna2d2 |
Information from provider
| Provider | Cord-Michael Becker |
| Provider affiliation | Department of Molecular Cell Biology - Max-Planck-Institute of Biochemistry |
| Genetic information | Duplication of exon 3 of Cacna2d2. |
| Phenotypic information | Absence epilepsy, paroxysmal dyskinesia, ataxia, female infertility due to dysmorphic uterus, male fertility reduced (probably due to motor deficit). |
| Breeding history | N15 C57BL/6J. |
| References |
|
Information from EMMA
| Archiving centre | Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany |
Disease and phenotype information
IMPC phenotypes (gene matching)
MGI phenotypes (allele matching)
- abnormal uterus morphology / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal locomotor behavior / MGI
- ataxia / MGI
- abnormal gait / MGI
- female infertility / MGI
- seizures / MGI
- abnormal sexual interaction / MGI
- nervous system phenotype / MGI
- abnormal neuron physiology / MGI
- abnormal brain wave pattern / MGI
- behavioral arrest / MGI
- postnatal lethality, incomplete penetrance / MGI
MGI phenotypes (gene matching)
- myoclonus / MGI
- abnormal pituitary gland morphology / MGI
- tremors / MGI
- hindlimb paralysis / MGI
- abnormal hindbrain morphology / MGI
- abnormal medulla oblongata morphology / MGI
- abnormal cerebellum morphology / MGI
- small cerebellum / MGI
- cerebellum vermis hypoplasia / MGI
- Purkinje cell degeneration / MGI
- abnormal Purkinje cell morphology / MGI
- decreased Purkinje cell number / MGI
- abnormal myelination / MGI
- abnormal motor neuron morphology / MGI
- abnormal CNS glial cell morphology / MGI
- abnormal spinal cord morphology / MGI
- decreased spinal cord size / MGI
- abnormal neuromuscular synapse morphology / MGI
- abnormal spinal nerve morphology / MGI
- abnormal uterus morphology / MGI
- absent corpus luteum / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal stationary movement / MGI
- abnormal locomotor behavior / MGI
- ataxia / MGI
- impaired coordination / MGI
- abnormal gait / MGI
- dehydration / MGI
- abnormal eating behavior / MGI
- limb grasping / MGI
- abnormal motor coordination/balance / MGI
- abnormal heart rate / MGI
- postnatal growth retardation / MGI
- thymus hypoplasia / MGI
- abnormal thymus involution / MGI
- rhinitis / MGI
- reduced fertility / MGI
- reduced male fertility / MGI
- reduced female fertility / MGI
- female infertility / MGI
- seizures / MGI
- abnormal motor capabilities/coordination/movement / MGI
- premature death / MGI
- no abnormal phenotype detected / MGI
- decreased brain weight / MGI
- abnormal CNS synaptic transmission / MGI
- abnormal nervous system electrophysiology / MGI
- abnormal sexual interaction / MGI
- tonic seizures / MGI
- abnormal neuron morphology / MGI
- increased susceptibility to pharmacologically induced seizures / MGI
- absence seizures / MGI
- axonal dystrophy / MGI
- abnormal involuntary movement / MGI
- nervous system phenotype / MGI
- abnormal glial cell physiology / MGI
- decreased neurotransmitter release / MGI
- abnormal ventral spinal root morphology / MGI
- abnormal dorsal spinal root morphology / MGI
- abnormal vertebral column morphology / MGI
- short vertebral body / MGI
- abnormal neuron physiology / MGI
- abnormal miniature endplate potential / MGI
- abnormal brain wave pattern / MGI
- lethargy / MGI
- decreased heart rate / MGI
- endocrine/exocrine gland phenotype / MGI
- reproductive system phenotype / MGI
- abnormal axon morphology / MGI
- abnormal enzyme/coenzyme activity / MGI
- abnormal hindbrain development / MGI
- abnormal spinal cord white matter morphology / MGI
- behavioral arrest / MGI
- absent lactotrophs / MGI
- decreased survivor rate / MGI
- abnormal spike wave discharge / MGI
- induced hyperactivity / MGI
- decreased neuron number / MGI
- abnormal miniature inhibitory postsynaptic currents / MGI
- skeletal muscle hypoplasia / MGI
- postnatal lethality, incomplete penetrance / MGI
- decreased pons size / MGI
Literature references
- entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse.;Brill Julia, Klocke Rainer, Paul Dieter, Boison Detlev, Gouder Nicolette, Klugbauer Norbert, Hofmann Franz, Becker Cord-Michael, Becker Kristina, ;2004;The Journal of biological chemistry;279;7322-30; 14660671
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