Bcl11a^em1Sho
Endonuclease-mediated Allele Detail

Summary

• Symbol: Bcl11a^em1Sho
• Name: BCL11 transcription factor A; endonuclease-mediated mutation 1, Stuart Orkin
• MGI ID: MGI:5828768
• Synonyms: Bcl11a(deltaenh)
• Gene: Bcl11a Location: Chr11:24028056-24124123 bp, + strand Genetic Position: Chr11, 14.41 cM
• Alliance: Bcl11a^em1Sho page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:239331
• 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: 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'-CCAGGAGCCTCAAGCAAGCC-3' and 5'-CGACTGGCTGATGACATCAC-3'. (J:239331)

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: 44 strains or lines available

References

• Original: J:239331 Smith EC, et al., Strict in vivo specificity of the Bcl11a erythroid enhancer. Blood. 2016 Oct 05;128(19):2338-2342
• All: 1 reference(s)