Symbol
Name
ID
|
Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
MGI:109482
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Nomenclature History
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Synonyms
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alpha1A, Cacnl1a4, Ccha1a, nmf352, SCA6
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Genetic Map
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Sequence Map
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Mammalian
homology
|
|
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Sequences
|
All sequences(37)
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Alleles
and
phenotypes
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All alleles(45) :
Targeted, knock-out(3)
Targeted, other(10)
Gene trapped(23)
Spontaneous(6)
Chemically induced(3)
| Homozygotes for different mutant alleles are characterized by variably severe wobbly gait beginning prior to weaning, ataxia, episodic dyskinesia, cerebellar atrophy, and absence epilepsy. |
Associated Human Diseases (1)
Alleles Annotated to Human Diseases (2)
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Polymorphisms
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All PCR and RFLP(4) :
PCR(3)
RFLP(1)
SNPs within 2kb(1331 from dbSNP Build 128)
SNPs within 2kb including multiple locations(1337)
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Gene Ontology
(GO)
classifications
|
|
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Expression
|
Literature Summary: (4 records)
Data Summary:
Assays (5)
Results (51)
Tissues (12)
Theiler Stages: 17,20,22,24,25,28
| |
Assay Type |
Assays |
|
Results |
| |
RT-PCR |
1 |
|
3 |
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Northern blot |
4 |
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48 |
cDNA source data(29)
External Resources:
Allen Brain Atlas
GEO
|
Molecular
reagents
|
All nucleic(39)
Genomic(4)
cDNA(30)
Primer pair(4)
Other(1)
Microarray probesets(2)
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Other database
links
|
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Protein
domains
|
| InterPro ID |
Description |
| IPR002077 |
Voltage-dependent calcium channel, alpha-1 subunit |
| IPR005448 |
Voltage-dependent calcium channel, P/Q-type, alpha-1 subunit |
| IPR005821 |
Ion transport |
| IPR014873 |
Voltage-dependent calcium channel, alpha-1 subunit, IQ domain |
| IPR017956 |
AT hook, DNA-binding motif |
Graphical View
of Protein Domain Structure
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References
|
(Earliest)
J:262
GREEN MC et al.,
"Tottering--a neuromusclar mutation in the mouse. And its linkage with oligosyndacylism."
J Hered 1962 Sep-Oct;53():233-7
(Latest)
J:151450
Takahashi E et al.,
"Age-related spatial and nonspatial short-term memory in Cav2.1alpha1 mutant mice, Rolling Nagoya."
Behav Brain Res 2009 Dec 1;204(1):241-5
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All references(173)
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Other
accession IDs
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MGD-MRK-11727, MGD-MRK-15048, MGD-MRK-35757, MGD-MRK-39481, MGI:1890949, MGI:3588957
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