Jak3^tm1.1Sebma
Targeted Allele Detail

Summary

• Symbol: Jak3^tm1.1Sebma
• Name: Janus kinase 3; targeted mutation 1.1, Sebastien Malinge
• MGI ID: MGI:8436606
• Synonyms: Jak3^A568V, Jak3^A572V, Jak3^KI
• Gene: Jak3 Location: Chr8:72129027-72143221 bp, + strand Genetic Position: Chr8, 34.43 cM
• Alliance: Jak3^tm1.1Sebma page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:290824
• Parent Cell Line: TC1/TC-1 (ES Cell)
• Strain of Origin: 129S6/SvEvTac

Mutation description

• Allele Type: Targeted (Constitutively active, Humanized sequence)
• Mutation: Single point mutation
• Mutation details:

  Alanine codon 568 (GCC) in exon 13 was changed to valine (GTC) (p.A568V) and an FRT site flanked neomycin resistance gene cassette was inserted into intron 13. The neo cassette was removed through subsequent Flp-mediated recombination. The mutation is the equivalent of the human p.A572V mutation associated with the leukemic form of cutaneous T-cell lymphoma (L-CTCL) and in mice leads to a similar phenotype. (J:290824)

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: 0 strains available Cell Lines: 0 lines available
• Carrying any Jak3 Mutation: 85 strains or lines available

References

• Original: J:290824 Rivera-Munoz P, et al., Partial trisomy 21 contributes to T-cell malignancies induced by JAK3-activating mutations in murine models. Blood Adv. 2018 Jul 10;2(13):1616-1627
• All: 1 reference(s)