Kdm6bem1Masn
Endonuclease-mediated Allele Detail
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Symbol: |
Kdm6bem1Masn |
Name: |
KDM1 lysine (K)-specific demethylase 6B; endonuclease-mediated mutation 1, Masahide Asano |
MGI ID: |
MGI:6277163 |
Synonyms: |
Jmjd3deltaDM |
Gene: |
Kdm6b Location: Chr11:69289334-69304501 bp, - strand Genetic Position: Chr11, 42.6 cM
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Alliance: |
Kdm6bem1Masn page
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Allele Type: |
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Endonuclease-mediated (Not Applicable) |
Mutation: |
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Intragenic deletion
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Mutation details: CRISPR/Cas9 technology generated a 27 bp deletion within exon 18, including the coding sequence for the demethylase activity of Kdm6b. This allele lacks the splice acceptor of exon 18, resulting in two types of mRNA; an r.4570_4599del that encodes a predicted protein that contains a deletion of amino acids 1387-1396 (deltaDM) and is predicted to lose H3K27 demethylase activity and a second mRNA transcribed from exon 17 through intron 17, producing a nonsense mutation in intron 17 which results in a predicted C-terminal deletion (deltaC). qRT-PCR shows that the ratio of deltaDM mRNA to deltaC mRNA is about 1.5 to 1.
(J:247259)
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Original: |
J:247259 Naruse C, et al., New insights into the role of Jmjd3 and Utx in axial skeletal formation in mice. FASEB J. 2017 Jun;31(6):2252-2266 |
All: |
1 reference(s) |
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