Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Tyk2E775K
Name:	tyrosine kinase 2; E775K
MGI ID:	MGI:3706656
Synonyms:	Tyk2A
Gene:	Tyk2  Location: Chr9:21015364-21042539 bp, - strand  Genetic Position: Chr9, 7.71 cM, cytoband A3
Alliance:	Tyk2E775K page

Strain of Origin:

B10.D1-H2q/SgJ

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

View phenotypes and curated references for all genotypes (concatenated display).

In Structures Affected by this Mutation:

2 anatomical structure(s)

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:	70 strains or lines available

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)