Dnmt1^em2Jiemw
Endonuclease-mediated Allele Detail

Summary

• Symbol: Dnmt1^em2Jiemw
• Name: DNA methyltransferase 1; endonuclease-mediated mutation 2, Jiemin Wong
• MGI ID: MGI:7506781
• Synonyms: Dnmt1^M2
• Gene: Dnmt1 Location: Chr9:20818501-20871084 bp, - strand Genetic Position: Chr9, 7.66 cM
• Alliance: Dnmt1^em2Jiemw page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Proline codon 497 (CCC) was changed to tyrosine (TAC) (p.P497Y) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation mimics the human p.P491Y mutation associated with HSAN1E (hereditary sensory and autonomic neuropathy type 1E with dementia and hearing loss). (J:310870)

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 Dnmt1 Mutation: 112 strains or lines available

References

• Original: J:310870 Wang W, et al., Mutation-induced DNMT1 cleavage drives neurodegenerative disease. Sci Adv. 2021 Sep 3;7(36):eabe8511
• All: 1 reference(s)