Tyk2^E775K
Spontaneous Allele Detail

Summary

• Symbol: Tyk2^E775K
• Name: tyrosine kinase 2; E775K
• MGI ID: MGI:3706656
• Synonyms: Tyk2^A
• Gene: Tyk2 Location: Chr9:21015364-21042539 bp, - strand Genetic Position: Chr9, 7.71 cM, cytoband A3
• Alliance: Tyk2^E775K page

Mutation origin

• Strain of Origin: B10.D1-H2^q/SgJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: This allele corresponds to a substitution of G to A at coding nucleotide 2335 (transcript NM_018793), resulting in an amino acid substitution that replaces glutamic acid with lysine at position 779 (p.E779K). The missense mutation occurs at highly conserved APE motif of the Jak homology 2 (JH2) domain. Although mRNA transcript is detectable in spleen, anti-Tyk2 specific antibody cannot detect protein either in the activated or inactivated form. (J:85848)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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 Tyk2 Mutation: 72 strains or lines available

References

• Original: J:69051 Ortmann R, et al., A heritable defect in IL-12 signaling in B10.Q/J mice. I. In vitro analysis. J Immunol. 2001 May 1;166(9):5712-9
• All: 8 reference(s)