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Cacna2d2tm1Svi
Targeted Allele Detail
Summary
Symbol: Cacna2d2tm1Svi
Name: calcium channel, voltage-dependent, alpha 2/delta subunit 2; targeted mutation 1, Sergey V Ivanov
MGI ID: MGI:3055290
Synonyms: Cacna2d2tm1Ncif
Gene: Cacna2d2  Location: Chr9:107276948-107406545 bp, + strand  Genetic Position: Chr9, 58.02 cM
Alliance: Cacna2d2tm1Svi page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:92396
Parent Cell Line:  CJ7 (ES Cell)
Strain of Origin:  129S1/Sv-Oca2+ Tyr+ Kitl+
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsA neomycin resistance cassette replaced exons 33-39 of the gene. The replacement eliminated the delta subunit and the 87 C-terminal amino acids of the alpha-2 subunit of the protein. Northern blots of brain detected the truncated 5' mRNA and did not detect the 3' region. RT-PCR derived from brain did not detect the targeted 3' portion of the transcript. (J:92396)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cacna2d2 Mutation:  72 strains or lines available
References
Original:  J:92396 Ivanov SV, et al., Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene. Am J Pathol. 2004 Sep;165(3):1007-18
All:  2 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
11/12/2024
MGI 6.24
The Jackson Laboratory