Cacna1stm1.1Cann
Targeted Allele Detail
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Symbol: |
Cacna1stm1.1Cann |
Name: |
calcium channel, voltage-dependent, L type, alpha 1S subunit; targeted mutation 1.1, Stephen Cannon |
MGI ID: |
MGI:5473902 |
Synonyms: |
CACNA1SR528H, R528Hm |
Gene: |
Cacna1s Location: Chr1:135980549-136047268 bp, + strand Genetic Position: Chr1, 59.55 cM, cytoband F
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Alliance: |
Cacna1stm1.1Cann page
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Vacuolar myopathy in Cacna1stm1.1Cann/Cacna1stm1.1Cann muscle and rare dilated cisternae in Cacna1stm1.1Cann/Cacna1s+ sarcoplasmic reticulum
Show the 1 phenotype image(s) involving this allele.
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Germline Transmission: |
Earliest citation of germline transmission:
J:193967
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Parent Cell Line: |
Not Specified (ES Cell)
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Strain of Origin: |
Not Specified
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Allele Type: |
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Targeted (Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: Exon 11 was replaced with a modified exon 11 in which a G to A substitution results in the amino acid substitution of histidine for arginine at position 528 (R528H). Cre-mediated recombination removed the neo cassette.
(J:193967)
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Generation of the Cacna1stm1.1Cann allele |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Cacna1s Mutation: |
118 strains or lines available
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Original: |
J:193967 Wu F, et al., A calcium channel mutant mouse model of hypokalemic periodic paralysis. J Clin Invest. 2012 Dec 3;122(12):4580-91 |
All: |
2 reference(s) |
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