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Cacna2d2du-2J
Spontaneous Allele Detail
Nomenclature
Symbol: Cacna2d2du-2J
Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2; ducky 2 Jackson
MGI ID: MGI:2149331
Synonyms: du2J
Gene: Cacna2d2  Location: Chr9:107399733-107529346 bp, + strand  Genetic Position: Chr9, 58.02 cM
Mutation
origin
Strain of Origin:  C57BLKS/J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsA 2 bp deletion within exon 9 is predicted to cause a frameshift and premature truncation of the encoded protein. Northern blot analysis on mRNA derived from brain tissue of homozygous mice showed no difference in transcription levels compared to wild type, suggesting stability of the mutated transcript. (J:70845)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 3 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Cacna2d2 Mutation:  45 strains or lines available
References
Original:  J:70845 Barclay J, et al., Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J Neurosci. 2001 Aug 15;21(16):6095-104
All:  3 reference(s)

Contributing Projects:
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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last database update
04/06/2021
MGI 6.16
The Jackson Laboratory