Gene Summary

Name:
5-methyltetrahydrofolate-homocysteine methyltransferase reductase
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Mtrrem1(IMPC)Bay HOM   Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Eye Morphology

VIP of right eye

16 Images

Eye Morphology

VIP of right fundus

16 Images

Eye Morphology

VIP of left eye

16 Images

Eye Morphology

VIP of left fundus

16 Images

Human diseases caused by Mtrr mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Mtrr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Homocystinuria OMIM:236270
Methylcobalamin Deficiency Type Cble
Failure to thrive ORPHA:2169
Neural Tube Defects, Folate-Sensitive
OMIM:601634

The table below shows human diseases predicted to be associated to Mtrr by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Tyrosinosis
Hypertyrosinemia OMIM:276800
Histidinemia
Histidinuria, Hyperhistidinemia ORPHA:2157
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Failure to thrive, Homocystinuria OMIM:236270
Methylcobalamin Deficiency Type Cble
Failure to thrive ORPHA:2169
Neural Tube Defects, Folate-Sensitive
OMIM:601634

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mtrr

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Mtrr.

No publications found that use IMPC mice or data for Mtrr.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Mtrrtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Mtrrtm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mtrrem1(IMPC)Bay Exon Deletion Mice

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