Il2ra^M1J
Spontaneous Allele Detail

Summary

• Symbol: Il2ra^M1J
• Name: interleukin 2 receptor, alpha chain; mutation 1, Jackson
• MGI ID: MGI:6364029
• Synonyms: mut
• Gene: Il2ra Location: Chr2:11647618-11698004 bp, + strand Genetic Position: Chr2, 8.91 cM, cytoband A2-A3
• Alliance: Il2ra^M1J page

Mutation origin

• Strain of Origin: B6.129S4-Ccr2^tm1Ifc/J

Mutation description

• Allele Type: Spontaneous (Hypomorph)
• Mutation: Single point mutation
• Mutation details: This spontaneous point substitution of T-to-C at coding nucleotide 436 im exon 4 results in the replacement of a highly conserved tyrosine with histidine at position 146 (p.Y146H) in the SVHYECIP motif, which results in ER retention of this mutant protein and diminished cell surface expression. (J:268677)
• Inheritance: Semidominant

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 Il2ra Mutation: 51 strains or lines available

References

• Original: J:268677 Chorro L, et al., Interleukin 2 modulates thymic-derived regulatory T cell epigenetic landscape. Nat Commun. 2018 Dec 18;9(1):5368
• All: 2 reference(s)