H2-Aa^b-m1Jotk
Chemically induced Allele Detail

Summary

• Symbol: H2-Aa^b-m1Jotk
• Name: histocompatibility 2, class II antigen A, alpha; mutation 1, John T Kung
• MGI ID: MGI:6511771
• Synonyms: H2-Aa^m1Jotk, I-A^12%
• Gene: H2-Aa Location: Chr17:34501718-34506797 bp, - strand Genetic Position: Chr17, 17.98 cM
• Alliance: H2-Aa^b-m1Jotk page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph, Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: Male C57BL/6 mice were treated with ENU and subsequent generations screened for reduced expression of H2-A (mouse MHC-II) protein on the surface of peripheral blood lymphocytes (PBLs), resulting in the identification of this allele. The point mutation of the conserved A at position 408 of intron 2 branch site to T leads to aberrant splicing, resulting in reduced expression of H-2A mRNA and protein to around 12% of wildtype levels. In addition to reduced level of wildtype H-2A mRNA, the A-to-T branch site point mutation causes the formation of two aberrant mRNAs species, one of which is spliced using a cryptic splice acceptor in intron 2, while the other results from intron 2 read-through. Both of these aberrant mRNA species encode non-functional premature terminated H-2A protein. (J:244717)

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 H2-Aa Mutation: 31 strains or lines available

References

• Original: J:244717 Chen YT, et al., Low-Level MHC Class II Expression Leads to Suboptimal Th Cell Response, Increased Autoaggression, and Heightened Cytokine Inducibility. J Immunol. 2017 Mar 01;198(5):1928-1943
• All: 3 reference(s)