RGD Reference Report - Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels. - Rat Genome Database

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Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.

Authors: Platzer, J  Engel, J  Schrott-Fischer, A  Stephan, K  Bova, S  Chen, H  Zheng, H  Striessnig, J 
Citation: Platzer J, etal., Cell 2000 Jul 7;102(1):89-97.
RGD ID: 1300292
Pubmed: PMID:10929716   (View Abstract at PubMed)

Voltage-gated L-type Ca2+ channels (LTCCs) containing a pore-forming alpha1D subunit (D-LTCCs) are expressed in neurons and neuroendocrine cells. Their relative contribution to total L-type Ca2+ currents and their physiological role and significance as a drug target remain unknown. Therefore, we generated D-LTCC deficient mice (alpha1D-/-) that were viable with no major disturbances of glucose metabolism. alpha1D-/-mice were deaf due to the complete absence of L-type currents in cochlear inner hair cells and degeneration of outer and inner hair cells. In wild-type controls, D-LTCC-mediated currents showed low activation thresholds and slow inactivation kinetics. Electrocardiogram recordings revealed sinoatrial node dysfunction (bradycardia and arrhythmia) in alpha1D-/- mice. We conclude that alpha1D can form LTCCs with negative activation thresholds essential for normal auditory function and control of cardiac pacemaker activity.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Deafness  ISOCacna1d (Mus musculus)1300292; 1300292 RGD 
Deafness  IMP 1300292 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cacna1d  (calcium voltage-gated channel subunit alpha1 D)

Genes (Mus musculus)
Cacna1d  (calcium channel, voltage-dependent, L type, alpha 1D subunit)

Genes (Homo sapiens)
CACNA1D  (calcium voltage-gated channel subunit alpha1 D)


Additional Information