Dnmt3a^em1Hwg
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnmt3a^em1Hwg
• Name: DNA methyltransferase 3A; endonuclease-mediated mutation 1, Harrison W Gabel
• MGI ID: MGI:8175483
• Synonyms: Dnmt3a^P900L
• Gene: Dnmt3a Location: Chr12:3856007-3964443 bp, + strand Genetic Position: Chr12, 1.99 cM, cytoband A2-A3
• Alliance: Dnmt3a^em1Hwg page

Mutation origin

• Strain of Origin: C57BL/6J x CBA

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated a C to T change at chr12:3,907,719 (GRCm38/mm10 assembly) resulting in a proline to leucine substitution at amino acid 900 (p.P900L). This corresponds to the human P904L mutation in individuals with the mild overgrowth and intellectual disability Tatton-Brown-Rahman Syndrome. RT-qPCR showed normal mRNA expression in the cortex but Western blot showed subtle reduction in protein expression. Whole genome bisulfite sequencing across multiple brain regions showed widespread reduction in neural methylation, with mCA levels particularly affected. (J:348795)

Disease models

Expression

In Mice Carrying this Mutation:	1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 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:348795 Beard DC, et al., Distinct disease mutations in DNMT3A result in a spectrum of behavioral, epigenetic, and transcriptional deficits. Cell Rep. 2023 Nov 28;42(11):113411
• All: 2 reference(s)