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Aspartic acid codon 387 (GAT) was targeted for change to an alanine codon (GCG)(p.D387A) with an sgRNA (targeting TAATACGACTCACTATAGGACAGAACCACACTTTAGAAGGTTTTAGAGCTAGAAATAGCA) and an ssODN template (CCAAGATCTTTTTCATTCAGGCTTGCCAAGGAAGTAACTTCCAGAAAGGAGTGCCTGATGAGGCAGGCTTCGAGCAACAGAACCACACTTTGGAGGTTGCGAGCTCATCTCACAAGAACTATATTCCGGATGAGGCAGACTTTCTGCTGGGAATGGCTACGGTGAAGAACTGCGTTTCCTACCGAGATCCTGTGAATGGA) using CRISPR/Cas9 technology. The mutation creates an uncleavable form of the encoded peptide. (J:296046)
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
