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

Symbol: Cacna2d2ent 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: Cacna2d2ent page

Ataxia, parosysmal dyskinesia, decreased weight and survival, and female infertility in Cacna2d2ent/Cacna2d2ent mice Show the 1 phenotype image(s) involving this allele.

Strain of Origin:

DBA/2J

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

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

In Structures Affected by this Mutation:

2 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: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)