Mmachc | methylmalonic aciduria cblC type, with homocystinuria
Physiological systems
21 / 24 physiological systems tested
12 Significantly impacted by the knock-out
Homeostasis/metabolism Reproductive system Immune system Integument Embryo Growth/size/body region Limbs/digits/tail Vision/eye Respiratory system Mortality/aging Craniofacial Renal/urinary system
9 No significant impact
3 Not tested
Gene metrics:15Significant phenotypes
2Associated diseases
Expression examined in:0Adult tissues
51Embryo tissues
Human diseases caused by Mmachc 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.
External links
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