CRISPR/cas9 genome editing is used to create an amino acid substitution at position 373 (glutamate to glutamine, GAG to CAG, E373Q) and a silent mutation in the Cas9 PAM site (Ala371A - GCC to GCT - to prevent additional editing). The mutation preserves the helical structure of the HExxH motif but prevents the generation of a reactive nucleophile at the zinc metalloprotease site. (J:309184)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Endonuclease-mediated
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:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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