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Proline codon 847 (CCG) in exon 12 was changed to leucine (CTG) (p.P847L) using an sgRNA (targeting GACGATCTGCCCTACCCGTTTGG) and an ssODN template (TATGTGCTATGTCCCCGCACAGGTCAGGAGCGCATGGTGATAGCTGACGATCTGCCCTACCTGTTTGGCCTGACTCAATATAGCGATTACATCTACTGGACTGACTGGAACCTGCATAGCATT) with CRIPSR/Cas9 technology. The equivalent human mutation (p.P848L) is found in some familial exudative vitreoretinopathy (FEVR) patients. (J:328283)
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
