Bcl11b^em1Srft
Endonuclease-mediated Allele Detail

Summary

• Symbol: Bcl11b^em1Srft
• Name: B cell leukemia/lymphoma 11B; endonuclease-mediated mutation 1, Stephen RF Twigg
• MGI ID: MGI:7564507
• Synonyms: BCL11B p.R3S
• Gene: Bcl11b Location: Chr12:107876662-107969861 bp, - strand Genetic Position: Chr12, 59.1 cM, cytoband F1
• Alliance: Bcl11b^em1Srft page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:285570
• Parent Cell Line: E14TG2aIV (ES Cell)
• Strain of Origin: 129P2/OlaHsd

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Single point mutation
• Mutation details: CRISPR-targeting introduced the mutation responsible for the amino acid substitution of arginine with serine at position three (R3S). This mutation replicates on identified in patients with craniosynostosis. (J:285570)

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: 45 strains or lines available

References

• Original: J:285570 Goos JAC, et al., A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis. Hum Mol Genet. 2019 Apr 3
• All: 1 reference(s)