Dnmt3atm1Trow
Targeted Allele Detail
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Symbol: |
Dnmt3atm1Trow |
Name: |
DNA methyltransferase 3A; targeted mutation 1, Jennifer Trowbridge |
MGI ID: |
MGI:6188116 |
Synonyms: |
Dnmt3afl-R878H |
Gene: |
Dnmt3a Location: Chr12:3856007-3964443 bp, + strand Genetic Position: Chr12, 1.99 cM, cytoband A2-A3
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Alliance: |
Dnmt3atm1Trow page
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Germline Transmission: |
Earliest citation of germline transmission:
J:272803
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Parent Cell Line: |
JM8A3 (ES Cell)
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Strain of Origin: |
C57BL/6N-Atm1Brd
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Allele Type: |
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Targeted (Conditional ready, Humanized sequence) |
Mutations: |
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Insertion, Single point mutation
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Mutation details: The targeting vector was designed to insert a loxP site, a PGK-Puro selection cassette, a splice acceptor, an endogenous Dnmt3a exon 23 sequence, a polyA sequence, a STOP cassette (4xSV40pA), followed by a second loxP site into intron 22 upstream of a modified Dnmt3a exon 23 sequence containing the 2633G>A substitution that encodes an arginine-to-histidine mutation at amino acid 878 (R878H) commonly found in patients with aging-associated clonal hematopoiesis, acute myeloid leukemia (AML) and other haematological malignancies.
(J:272803)
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View phenotypes and curated references for all genotypes (concatenated display).
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Original: |
J:272803 Loberg MA, et al., Sequentially inducible mouse models reveal that Npm1 mutation causes malignant transformation of Dnmt3a-mutant clonal hematopoiesis. Leukemia. 2019 Jan 28; |
All: |
5 reference(s) |
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