Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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: Chr9:107276948-107406545 bp, + strand  Genetic Position: Chr9, 58.02 cM
Alliance:	Cacna2d2du-2J page

Strain of Origin:

C57BLKS/J

Allele Type:    Spontaneous Mutation:    Intragenic deletion   Mutation details: A 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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:	72 strains or lines available

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:	4 reference(s)