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CRISPR/Cas9 technology targeting is used to introduce a nucleotide substitution R298Q (guanine to adenine) at position rs33080487 in the Rabep2 gene. Gene product is detected by western blot analysis (with mass spectrometry confirmation) of whole brain and neocortex tissue. The nucleotide substitution reflects a polymorphism (adenine) found in the BALB/cByJ inbred strain, in contrast to guanine found in C57BL/6 mice. (J:241068)
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
