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Aspartic acid codons 701 (GAC) and 707 (GAC) in exon 18 were changed to asparagine (AAC) (p.D701N, p.D707N) and an FRT site flanked puromycin resistance gene cassette was inserted into intron 17. The puro cassette was removed through subsequent Flp-mediated recombination. These mutations are located in the C2B domain of the encoded polypeptide and eliminate Ca2+-binding by the C2B domain. (J:325344)
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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References Literature
Title
PMID
Journal
Year
IF
