Dnmt1^tm1Okan
Targeted Allele Detail

Summary

• Symbol: Dnmt1^tm1Okan
• Name: DNA methyltransferase 1; targeted mutation 1, Masaki Okano
• MGI ID: MGI:3769043
• Synonyms: Dnmt1^ps
• Gene: Dnmt1 Location: Chr9:20818501-20871084 bp, - strand Genetic Position: Chr9, 7.66 cM
• Alliance: Dnmt1^tm1Okan page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:129049
• Parent Cell Line: J1 (ES Cell)
• Strain of Origin: 129S4/SvJae

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutation: Nucleotide substitutions
• Mutation details: A point mutation in exon 32 introduced an amino acid substituation of serine for cysteine at position 1229 (C1229S). This mutation results in an abrogation of catalytic activity. Additionally, an IRES-betageo cassette was inserted into an intron upstream of the point mutation and was subsequently removed by cre-mediated recombination. Expression of the full-length protein was confirmed by western blot analysis on embryonic stem cell extracts. (J:129049)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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ht1	Dnmt1^tm1Okan/Dnmt1^tm2Enl	involves: 129S4/SvJae

Phenotypes:

Affected Systems	ht1
show or hide all annotated terms
cellular	√
decreased cell proliferation	√
embryo	√
failure of initiation of embryo turning	√
embryonic growth arrest	√
open neural tube	√
failure of somite differentiation	√
nervous system	√
open neural tube	√

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 Dnmt1 Mutation: 112 strains or lines available

References

• Original: J:129049 Takebayashi S, et al., Major and essential role for the DNA methylation mark in mouse embryogenesis and stable association of DNMT1 with newly replicated regions. Mol Cell Biol. 2007 Dec;27(23):8243-58
• All: 2 reference(s)