Kynu^em1Dunw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Kynu^em1Dunw
• Name: kynureninase; endonuclease-mediated mutation 1, Sally L Dunwoodie
• MGI ID: MGI:6285803
• Gene: Kynu Location: Chr2:43445341-43572734 bp, + strand Genetic Position: Chr2, 25.64 cM, cytoband C1
• Alliance: Kynu^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 409 base pair deletion (c.253-200_294-7827del/p.Iso58Argfs*7) of exon 3 that generates a frameshift mutation and encodes for a truncated protein consisting of 58 N-terminal amino acids of KYNU. 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: 1 strain available Cell Lines: 0 lines available
• Carrying any Kynu Mutation: 33 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: 1 reference(s)