Haao^em1Dunw

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Species

Mus musculus

Symbol

Haao^em1Dunw

Category

allele

Allele of gene

Haao

Transgenic Constructs

None

Synonyms

None

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations