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CRISPER/Cas9 genome editing is used to change the lysine codon at position 489 to arginine (AAA to AGA) in exon 15 of the gene. This mutation results in a premature stop codon homologous to one found in exon 16, early in the encoding portion of the kinase domain, in the naked mole-rat species Heterocephalus glaber. Two G-to-T substitutions were also introduced in order to eliminate the Cas9 PAM sequence to prevent retargeting. (J:280429)
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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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
