Cacna2d2^du-2J
Spontaneous Allele Detail

Summary

• Symbol: Cacna2d2^du-2J
• Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2; ducky 2 Jackson
• MGI ID: MGI:2149331
• Synonyms: du^2J
• Gene: Cacna2d2 Location: Chr9:107276948-107406545 bp, + strand Genetic Position: Chr9, 58.02 cM
• Alliance: Cacna2d2^du-2J page

Mutation origin

• Strain of Origin: C57BLKS/J

Mutation description

• 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

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results
In Structures Affected by this Mutation:	3 anatomical structure(s)

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: 72 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: 4 reference(s)