Bcl11a^em2Sho
Endonuclease-mediated Allele Detail

Summary

• Symbol: Bcl11a^em2Sho
• Name: BCL11 transcription factor A; endonuclease-mediated mutation 2, Stuart Orkin
• MGI ID: MGI:5828771
• Synonyms: +62DHSdelta
• Gene: Bcl11a Location: Chr11:24028056-24124123 bp, + strand Genetic Position: Chr11, 14.41 cM
• Alliance: Bcl11a^em2Sho page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:260023
• Parent Cell Line: CJ9 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Endonuclease-mediated (Hypomorph)
• Mutation: Intragenic deletion
• Mutation details: The dominant +62 DNase I Hypersensitive Site in a 10kb enhancer region in intron 2 was targeted for deletion with the CRISPR/Cas9 system. In human, mutations in the orthologous enhancer region are associated with various hemoglobin disorders. The gRNA sequences used were 5'-TCGCTGCCTTCAGTTCTGCT-3' and 5'-CTATTTCCATTGGTGGATAC-3'. (J:239331, J:260023)

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 Bcl11a Mutation: 43 strains or lines available

References

• Original: J:260023 Canver MC, et al., BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. Nature. 2015 Nov 12;527(7577):192-7
• All: 2 reference(s)