Ankrd24em1Pgg
Endonuclease-mediated Allele Detail
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Symbol: |
Ankrd24em1Pgg |
Name: |
ankyrin repeat domain 24; endonuclease-mediated mutation 1, Peter G Gillespie |
MGI ID: |
MGI:6755469 |
Gene: |
Ankrd24 Location: Chr10:81464374-81483444 bp, + strand Genetic Position: Chr10, 39.72 cM, cytoband C1
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Alliance: |
Ankrd24em1Pgg page
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Allele Type: |
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Endonuclease-mediated (Null/knockout) |
Mutation: |
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Intragenic deletion
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Mutation details: CRISPR-targeting made a large deletion between exons 6 and 17 of 6,214-bp. The indel starts with an imperfect insertion of 7 bp (T/GCTTCC) where the initial T, part of the intronic sequence, is the first base variation from the wild-type sequence. The remaining 6 bp of the insert match the first bases of exon 6, afterward, then a deletion of 6,207-bp removes exons 7-16 and the first 65-bp of exon 17. This deletion results in a frameshift mutation in which the first 6 bp of exon 6, position 327 from the start codon, joins directly to the last 1,312-bp of exon 17 and an early stop at codon 114.
(J:321477)
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Original: |
J:321477 Krey JF, et al., ANKRD24 organizes TRIOBP to reinforce stereocilia insertion points. J Cell Biol. 2022 Apr 4;221(4):e202109134 |
All: |
1 reference(s) |
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