Cacna1d^tm1Jst
Targeted Allele Detail

Summary

• Symbol: Cacna1d^tm1Jst
• 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: Cacna1d^tm1Jst page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:63515
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 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)

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
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 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: 49 reference(s)