CRISPR/Cas9 genome engineering was used to generate mice with a knockin mutation that alters codon 271 from one encoding aspartic acid to one encoding alanine. This residue is part of the YD and GXGD active site motif that is highly conserved among intramembrane aspartyl proteases and whose mutation to alanine has been shown to abrogate protease activity. This allele is described as "protease-dead". (J:280182)

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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