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)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Cacna1d^tm1Jst/Cacna1d^tm1Jst	B6.129S7-Cacna1d^tm1Jst
hm2	Cacna1d^tm1Jst/Cacna1d^tm1Jst	involves: 129S7/SvEvBrd * C57BL/6J
cx3	Cacna1d^tm1Jst/Cacna1d^tm1Jst Kcnj5^tm1Clph/Kcnj5^tm1Clph	involves: 129S7/SvEvBrd * 129X1/SvJ * C57BL/6J

Phenotypes:

Affected Systems	hm1	hm2	cx3
show or hide all annotated terms
behavior/neurological	√	√
behavior/neurological phenotype	N
absent pinna reflex	√	√
cardiovascular system		√	N
cardiovascular system phenotype			N
abnormal heart rate		√
abnormal sinus arrhythmia		√
increased heart rate variability		√
decreased heart rate		√
prolonged RR interval		√
sinus bradycardia		√
increased heart rate		√
atrial fibrillation		√
abnormal sinoatrial node conduction		√
heart block		√
atrioventricular block		√
prolonged PR interval		√
abnormal myocardial fiber physiology		√
growth/size/body	√
decreased body weight	√
hearing/vestibular/ear	√	√
abnormal cochlear IHC afferent innervation pattern	√
abnormal cochlear IHC efferent innervation pattern	√
abnormal inner hair cell synaptic ribbon morphology	√
absent active-zone-anchored inner hair cell synaptic ribbon	√
cochlear hair cell degeneration	√
cochlear inner hair cell degeneration	√	√
cochlear outer hair cell degeneration	√	√
abnormal cochlear inner hair cell physiology	√	√
abnormal cochlear outer hair cell physiology		√
increased or absent threshold for auditory brainstem response		√
abnormal distortion product otoacoustic emission		√
deafness	√	√
sensorineural hearing loss	√	√
homeostasis/metabolism	N	√
homeostasis/metabolism phenotype	N	N
abnormal calcium ion homeostasis		√
mortality/aging		N
mortality/aging		N
nervous system	√	√
nervous system phenotype	N
abnormal cochlear IHC afferent innervation pattern	√
abnormal cochlear IHC efferent innervation pattern	√
abnormal inner hair cell synaptic ribbon morphology	√
absent active-zone-anchored inner hair cell synaptic ribbon	√
cochlear hair cell degeneration	√
cochlear inner hair cell degeneration	√	√
cochlear outer hair cell degeneration	√	√
abnormal cochlear inner hair cell physiology	√	√
abnormal cochlear outer hair cell physiology		√
cochlear ganglion degeneration	√	√
abnormal cochlear nerve morphology	√
abnormal action potential		√

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:	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: 52 reference(s)