Haao^em1Dunw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Haao^em1Dunw
• Name: 3-hydroxyanthranilate 3,4-dioxygenase; endonuclease-mediated mutation 1, Sally L Dunwoodie
• MGI ID: MGI:6285800
• Gene: Haao Location: Chr17:84138585-84155392 bp, - strand Genetic Position: Chr17, 54.85 cM, cytoband E4
• Alliance: Haao^em1Dunw page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Null/knockout)
• Mutation: Intragenic deletion
• Mutation details: 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)

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Haao Mutation: 20 strains or lines available

References

• Original: J:272339 Shi H, et al., NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552
• All: 2 reference(s)