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Dnmt3atm1Trow
Targeted Allele Detail
Summary
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
Alliance: Dnmt3atm1Trow page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:272803
Parent Cell Line:  JM8A3 (ES Cell)
Strain of Origin:  C57BL/6N-Atm1Brd
Mutation
description
Allele Type:    Targeted (Conditional ready, Humanized sequence)
Mutations:    Insertion, Single point mutation
 
Mutation detailsThe 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Dnmt3a Mutation:  139 strains or lines available
References
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory