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Proline codon 43 (CCC) was changed to serine (AGT) (p.P43S), glutamic acid codon 164 (GAA) to glycine (GGC) (p.E164G) and aspartic acid codon 380 (GAC) to histidine (CAC) (p.D380H) using sgRNAs (targeting GCACAGGTATGGGGTCAGCG, AAGCTCTCTAAATGAATCTT and AGGACAGTACTTCAGAGACA) and ssODN templates with CRISPR/Cas9 technology. These mutations change the mouse residues to the residues found in the orthologous human gene (S43, G162, H410). (J:327275)
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
