Mthfd1^tm1.1Rzn
Targeted Allele Detail

Summary

• Symbol: Mthfd1^tm1.1Rzn
• Name: methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase; targeted mutation 1.1, Rima Rozen
• MGI ID: MGI:5521203
• Synonyms: Mthfd1S^-
• Gene: Mthfd1 Location: Chr12:76302072-76366577 bp, + strand Genetic Position: Chr12, 33.52 cM, cytoband D2
• Alliance: Mthfd1^tm1.1Rzn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:199578
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 12 was replaced with one in which a point mutation (A to G) results in the amino acid substitution of glutamic acid for lysine at position 386 (K386E). This mutation disrupts synthetase activity while leaving dehydrogenase activity intact. Cre-mediated recombination removed a floxed neomycin resistance cassette inserted downstream of the modified exon 12. (J:199578)

Expression

In Structures Affected by this Mutation:

7 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 Mthfd1 Mutation: 79 strains or lines available

References

• Original: J:199578 Christensen KE, et al., A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development. Hum Mol Genet. 2013 Sep 15;22(18):3705-19
• All: 3 reference(s)