Mthfr^tm1Rzn
Targeted Allele Detail

Summary

• Symbol: Mthfr^tm1Rzn
• Name: methylenetetrahydrofolate reductase; targeted mutation 1, Rima Rozen
• MGI ID: MGI:2385823
• Synonyms: Mthfr^-
• Gene: Mthfr Location: Chr4:148123534-148144008 bp, + strand Genetic Position: Chr4, 78.67 cM
• Alliance: Mthfr^tm1Rzn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:67779
• Parent Cell Line: R1 (ES Cell)
• Strain of Origin: (129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: Exon 3 was disrupted by the insertion of a neomycin selection cassette. Transcript was undetected by RT-PCR analysis of brain tissue obtained from homozygous mutant mice. Enzymatic activity assays showed a lack of activity in homozygous mutant mice and levels reduced to 60 to 70% of wild-type in heterozygotes. (J:67779)

Disease models

Expression

In Mice Carrying this Mutation:	1 assay results 2 RNA-Seq or microarray experiment(s)
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: 2 strains available Cell Lines: 0 lines available
• Carrying any Mthfr Mutation: 70 strains or lines available

References

• Original: J:67779 Chen Z, et al., Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. Hum Mol Genet. 2001 Mar 1;10(5):433-43
• All: 60 reference(s)