CRISPR/cas9 genome editing is used to generate the H288D missense mutation. (CAT to GAT). The H288D missense mutation that corresponds to the human H310D clinical mutation associated with Zellweger syndrome and peroxisome biogenesis disorders type 6A and 6B .Additionally, the following silent nucleotide changes were included to improve efficiency by preventing guide reassociation and retargeting of the modified allele with CRISPR/Cas9 (C286C [TGT to TGC] and G287G [GGC to GGT]). (J:94077)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
Nucleotide substitutions
--
1
8
--

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

References Literature

Title
PMID
Journal
Year
IF
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