Mutated exon 2, where arginine codon 241 (AGA) was changed to glutamic acid (p.R241E), was inverted, and a lox71 site was inserted into intron 1 and a lox66, in opposite direction, into intron 2 using sgRNAs (targeting TTTATAGGCACCCTATGTACAGG and CTGACCGCACGACTTACCCTGGG) and an ssODN template with CRISPR/Cas9 technology. The allele is a knockout and only after Cre-mediated flipping of exon 2 will it express the mutated transcript/peptide. The mutation, the equivalent of the human p.R255E mutation, affects ageing-associated neurodegeneration. (J:340265)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Insertion, Nucleotide substitutions
--
1
--
1

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:
Show/Hide columns
Phenotypes

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top