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Glutamic acid codon 1014 (GAG) in exon 24 was changed to a lysine codon (AAG)(p.E1014K). The loxP site flanked neomycin resistance gene cassette that was inserted into intron 23 was removed through subsequent cre-mediated recombination. The mutation affects the Ca2+ permeability of the Ca2+ channel formed by Cacna1s. (J:321585)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
