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Cacna1dtm1Jst
Targeted Allele Detail
Summary
Symbol: Cacna1dtm1Jst
Name: calcium channel, voltage-dependent, L type, alpha 1D subunit; targeted mutation 1, Jorg Striessnig
MGI ID: MGI:2180141
Synonyms: alpha1D-, Cav1.3-, Cav1.3alpha1-
Gene: Cacna1d  Location: Chr14:29761898-30213113 bp, - strand  Genetic Position: Chr14, 18.43 cM, cytoband B
Alliance: Cacna1dtm1Jst page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:63515
Parent Cell Line:  AB2.2 (ES Cell)
Strain of Origin:  129S7/SvEvBrd-Hprt1b-m2
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutation:    Insertion
 
Mutation detailsExon 2 was disrupted by insertion of a PGK-neo cassette via homologous recombination resulting in the introduction of multiple stop codons and translation termination before the first transmembrane domain. Absence of gene expression was verified by Western blot analysis of brain membrane protein from homozygous mutant animals. (J:63515)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 7 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 Cacna1d Mutation:  119 strains or lines available
Notes
Phenotypic Similarity to Human Syndrome: Sick Sinus Syndrome J: 230439.
References
Original:  J:63515 Platzer J, et al., Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels. Cell. 2000 Jul 7;102(1):89-97
All:  47 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
03/19/2024
MGI 6.23
The Jackson Laboratory