Jak1^em1Maak
Endonuclease-mediated Allele Detail

Summary

• Symbol: Jak1^em1Maak
• Name: Janus kinase 1; endonuclease-mediated mutation 1, Masashi Akiyama
• MGI ID: MGI:6870531
• Synonyms: Jak1^{H595D/+;I596I/+;Y597Y/+}
• Gene: Jak1 Location: Chr4:101009564-101122479 bp, - strand Genetic Position: Chr4, 46.19 cM
• Alliance: Jak1^em1Maak page

Mutation origin

• Strain of Origin: C57BL/6JJcl

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR-targeting introduced a C to G point mutation (c.1783C to G) encoding the amino acid substitution of histidine with aspartic acid at position 595 (H595D) and two silent mutations (c.1788C to A (I596I) and c.1791T to C (Y597Y)) to avoid re-cleavage by Cas9. (J:318756)

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 Jak1 Mutation: 49 strains or lines available

References

• Original: J:318756 Takeichi T, et al., Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation. Front Immunol. 2021;12:737747
• All: 1 reference(s)