Card11^tm1.1Pomz
Targeted Allele Detail

Summary

• Symbol: Card11^tm1.1Pomz
• Name: caspase recruitment domain family, member 11; targeted mutation 1.1, Joel L Pomerantz
• MGI ID: MGI:8286641
• Synonyms: CARD11^C49Y
• Gene: Card11 Location: Chr5:140858745-140986337 bp, - strand Genetic Position: Chr5, 79.42 cM
• Alliance: Card11^tm1.1Pomz page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:378638
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6 x 129S/SvEv

Mutation description

• Allele Type: Targeted (Constitutively active, Humanized sequence)
• Mutations: Insertion, Single point mutation
• Mutation details: Cysteine codon 49 (TGC) in exon 3 was changed to tyrosine (TAC) (p.C49Y) and a loxP site flanked STOP cassette was inserted into intron 2. The STOP cassette was removed through subsequent Cre-mediated recombination. In humans, the gain-of-function mutation is found in diffuse large B cell lymphomas (DLBCL) and is associated with B cell expansion with NFKB and T cell anergy (BENTA). It renders the encoded protein constitutively active, which, in mice, affects B cell maturation and leads to splenomegaly and B cell expansion. (J:378638)

Expression

In Structures Affected by this Mutation:

1 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 Card11 Mutation: 59 strains or lines available

References

• Original: J:378638 Ghosh A, et al., Potentiation of noncanonical NF-kappaB signaling and marginal zone B cell expansion by CARD11-mediated regulation of p100 processing. Cell Rep. 2025 Dec 23;44(12):116616
• All: 1 reference(s)