Ifih1^em1Hkato
Endonuclease-mediated Allele Detail

Summary

• Symbol: Ifih1^em1Hkato
• Name: interferon induced with helicase C domain 1; endonuclease-mediated mutation 1, Hiroki Kato
• MGI ID: MGI:7278818
• Synonyms: MDA5 mR779H KI
• Gene: Ifih1 Location: Chr2:62426142-62476599 bp, - strand Genetic Position: Chr2, 35.85 cM, cytoband C3
• Alliance: Ifih1^em1Hkato page

Mutation origin

• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: Using crRNA and tracrRNA (targeting GTCATTAGTAAATTTCGCAC) and an ssODN template (TTCTTCTCCTAATTAGAAGATCTGAATGTGTTTAGCATCACAAAATTTAATTTATTAAAAATGTTTCCACAGACTGAACAAAAAGAAGTCATTAGTAAATTTCACACTGGCGAAATAAATCTGCTTATCGCTACGACGGTGGCAGAGGAAGGCCTGGATATCAAAGAGTGCAATATTGTTATTCGTTATGGCCTTGTC) with CRISPR/Cas9 technology, arginine codon 779 (CGC) was changed to histidine (CAC) (c.2336G>A, p.R779H). This mutation mimics one found in Aicardi-Goutieres Syndrome (AGS) patients. (J:324284)

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 Ifih1 Mutation: 50 strains or lines available

References

• Original: J:324284 Ohto T, et al., Intracellular virus sensor MDA5 mutation develops autoimmune myocarditis and nephritis. J Autoimmun. 2022 Feb;127:102794
• All: 1 reference(s)