Mthfr^em1Adiuj
Endonuclease-mediated Allele Detail

Summary

• Symbol: Mthfr^em1Adiuj
• Name: methylenetetrahydrofolate reductase; endonuclease-mediated mutation 1, MODEL-AD Center
• MGI ID: MGI:6202965
• Synonyms: Mthfr^677CT>
• Gene: Mthfr Location: Chr4:148123534-148144008 bp, + strand Genetic Position: Chr4, 78.67 cM
• Alliance: Mthfr^em1Adiuj page

Mutation origin

• Strain of Origin: B6(SJL)-Apoe^{tm1.1(APOE*4)Adiuj} Trem2^em1Adiuj/J

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: CRISPR/Cas9 genome editing is used to introduce a point mutation (GCC to GTC) creating the A262V mutation. This C to T mutation is homologous to the human C677T polymorphism that has been associated with various diseases including Alzheimer's, vascular and metabolic disease. (J:341560)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 3 strains available Cell Lines: 0 lines available
• Carrying any Mthfr Mutation: 70 strains or lines available

References

• Original: J:341560 Reagan AM, et al., The 677C > T variant in methylenetetrahydrofolate reductase causes morphological and functional cerebrovascular deficits in mice. J Cereb Blood Flow Metab. 2022 Dec;42(12):2333-2350
• All: 2 reference(s)