Cacna2d2^ent
Spontaneous Allele Detail

Summary

• Symbol: Cacna2d2^ent
• Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2; entla
• MGI ID: MGI:3038918
• Gene: Cacna2d2 Location: Chr9:107276948-107406545 bp, + strand Genetic Position: Chr9, 58.02 cM
• Alliance: Cacna2d2^ent page

Ataxia, parosysmal dyskinesia, decreased weight and survival, and female infertility in Cacna2d2^ent/Cacna2d2^ent mice

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Other
• Mutation details: A 38 kb genomic fragment encompassing a portion of intron 2, exon 3 (117 bp), and a portion of intron 3 spontaneously duplicated and integrated into the endogenous intron 3 with a 3 bp overlap. No apparent differences in expression or splicing were detected between the mutant wild-type alleles. Protein analysis indicated that the mutant precursor protein containing an additional 39 amino acids (encoded by the duplicated exon 3) was produced, properly associated with the plasma membrane, and was properly cleaved into alpha2 and delta2 subunits, however the cleaved subunits did not covalently associate with each other via disulfide bonds. (J:88967)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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

Notes

genbank ID for this mutation: AY502107

References

• Original: J:88967 Brill J, et al., entla, a novel epileptic and ataxic Cacna2d2 mutant of the mouse. J Biol Chem. 2004 Feb 20;279(8):7322-30
• All: 1 reference(s)