Bcl11b^tm5.1Itan
Targeted Allele Detail

Summary

• Symbol: Bcl11b^tm5.1Itan
• Name: B cell leukemia/lymphoma 11B; targeted mutation 5.1, Ichiro Taniuchi
• MGI ID: MGI:7853941
• Synonyms: Bcl11b^N797K
• Gene: Bcl11b Location: Chr12:107876662-107969861 bp, - strand Genetic Position: Chr12, 59.1 cM, cytoband F1
• Alliance: Bcl11b^tm5.1Itan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:360945
• Parent Cell Line: M1/M-1 (ES Cell)
• Strain of Origin: (129 x C57BL/6)F1

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: A C to A substitution was introduced in exon 4 and a floxed neo cassette was inserted adjacent to exon 4 via homologous recombination. Cre mediated recombination removed the neo cassette. The change in exon 4 results in a missense mutation of aspargine to lysine at position 797 this is homologous to the N807K mutation in patients with inborn errors of immunity. (J:360945)

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 Bcl11b Mutation: 46 strains or lines available

References

• Original: J:360945 Matsumoto K, et al., A Bcl11b(N797K) variant isolated from an immunodeficient patient inhibits early thymocyte development in mice. Front Immunol. 2024;15:1363704
• All: 1 reference(s)