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Mthfrtm1Rzn
Targeted Allele Detail
Nomenclature
Symbol: Mthfrtm1Rzn
Name: 5,10-methylenetetrahydrofolate reductase; targeted mutation 1, Rima Rozen
MGI ID: MGI:2385823
Synonyms: Mthfr-
Gene: Mthfr  Location: Chr4:148039077-148059551 bp, + strand  Genetic Position: Chr4, 78.67 cM
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 detailsExon 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)
Phenotypes
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View phenotypes for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 1 assay results
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:  24 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:  28 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory