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EN
CRISPR/Cas9 technology resulted in a 325 base pair deletion (c.82-167_161-4232del/p.HisCysfs*8) of exon 2 that generates a frameshift mutation and encodes for a truncated protein consisting of 28 N-terminal amino acids of HAAO. Western blot analysis confirmed absence of protein in liver and enzyme assays confirmed a null allele. (J:272339)
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
