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)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6N-Atm1Brd
Targeted
Insertion, Single point
--
1
8
2

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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