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| Nomenclature |
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Symbol:
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Mthfrtm1Rzn
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Name:
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5,10-methylenetetrahydrofolate reductase;
targeted mutation 1, Rima Rozen
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MGI ID: |
MGI:2385823 |
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Synonyms: |
Mthfr- |
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Gene:
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Mthfr
Location:
Chr4:148039077-148059551 bp, + strand
Genetic Position: Chr4,
78.67 cM
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:67779
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Parent Cell Line:
| R1 (ES Cell) |
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Strain of Origin:
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(129X1/SvJ x 129S1/Sv)F1-Kitl+
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutation: | |
Insertion |
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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)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Mthfr Mutation:
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22 strains or lines available |
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| References |
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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
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All: |
24 reference(s)
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Analysis Tools
