Rr249em2Ebres
Endonuclease-mediated Allele Detail
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Symbol: |
Rr249em2Ebres |
Name: |
regulatory region 249; endonuclease-mediated mutation 2, Emery H Bresnick |
MGI ID: |
MGI:7330390 |
Synonyms: |
Gata2 +9.5(Ets)- |
Gene: |
Rr249 Location: unknown Genetic Position: Chr6, Syntenic
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Alliance: |
Rr249em2Ebres page
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Allele Type: |
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Endonuclease-mediated (Modified regulatory region) |
Mutation: |
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Single point mutation
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Mutation details: The intronic Gata2 enhancer was targeted with an sgRNA (targeting TCTCCTGCCGGAGTTTCCTATCCGG) and an ssODN template (TTTCAAAACAGCCCAGCAAGAGGCAGGACTGAGTCGAGGTGGCTCTGAAAACTTGCCGGTCCAGAAACAGATACACGAAGTTTCCTTATCTACCGGCTGCAGATGTCCGGATAGGAAACTCCGGC) using CRISPR/Cas9 technology, resulting in a C-to-T mutation disabling the Ets motif TTCC by changing it to TTCT.
(J:295045)
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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
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Carrying any Rr249 Mutation: |
0 strains or lines available
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Original: |
J:295045 Soukup AA, et al., Single-nucleotide human disease mutation inactivates a blood-regenerative GATA2 enhancer. J Clin Invest. 2019 Mar 1;129(3):1180-1192 |
All: |
2 reference(s) |
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