Mthfr<tm1Rzn> Targeted Allele Detail MGI Mouse (MGI:2385823)

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Mthfr^tm1Rzn
Targeted Allele Detail

Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Find Mice (IMSR) | References

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)

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

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)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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