Gene Summary
IMPC Data Collections
- Body Weight Measurements
- No Embryo Imaging Data
- Viability Data
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 |
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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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