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Serine codon 2159 (TCT) in exon 46 was changed to alanine (GCT) (p.S2159A) using two sgRNAs (targeting CACCGTGGTTGGGGTCGTATGTTCC and AAACGGAACATACGACCCCAACCAC) and an ssODN template (GTTCAAAGCTCACATCCCTGGAGCTGCAGTATGTGTCCCCCAAACTTCTGATGTGCCGAGACCTTGAGTTGGCTGTGCCCGGGACATATGACCCAAACCAGCCAATCATTCGCATTCAATCCATAGCCCCGGCTTTGCAAGTCATCACATCCAAGCAGAGGCCTCGGAAGCTGACTCTGA) with CRISPR/Cas9 technology. This mutation prevents phosphorylation of the residue. (J:257513)
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
