Dnmt3a^tm1.1Rlvn
Targeted Allele Detail

Summary

• Symbol: Dnmt3a^tm1.1Rlvn
• Name: DNA methyltransferase 3A; targeted mutation 1.1, Ross Levine
• MGI ID: MGI:8175499
• Synonyms: Dnmt3a^R878H
• Gene: Dnmt3a Location: Chr12:3856007-3964443 bp, + strand Genetic Position: Chr12, 1.99 cM, cytoband A2-A3
• Alliance: Dnmt3a^tm1.1Rlvn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:321204
• Parent Cell Line: iTL IC1 (ES Cell)
• Strain of Origin: C57BL/6NTac

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: The targeting vector is designed to insert a minigene combining exons 23 and 24 in place of the endogenous exon 23. This minigene was modified to harbor a guanine to adenine substitution at amino acid 878, resulting in an arginine to histidine mutation (R878H), which corresponds to a R882H mutation commonly found in patients with acute myeloid leukemia (AML). The floxed STOP/neomycin cassette that was placed directly upstream of the modified minigene was removed via cre-mediated recombination in the germline. (J:321204)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	9 anatomical structure(s)

Find Mice (IMSR)

• 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
• Carrying any Dnmt3a Mutation: 139 strains or lines available

References

• Original: J:321204 Smith AM, et al., Functional and epigenetic phenotypes of humans and mice with DNMT3A Overgrowth Syndrome. Nat Commun. 2021 Jul 27;12(1):4549
• All: 3 reference(s)