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Symbol
Name
ID
Mmut
methylmalonyl-Coenzyme A mutase
MGI:97239
Phenotype annotations related to renal/urinary system
Darker colors indicate more annotations
Human Phenotypes
Methylmalonic aciduria
Tubulointerstitial nephritis
Renal insufficiency
Stage 5 chronic kidney disease
Disease(s) Associated with MMUT
methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Mouse Phenotypes
increased urine chloride ion level
increased urine potassium level
increased urine sodium level
increased urine calcium level
increased urine magnesium level
aciduria
organic aciduria
methylmalonic aciduria
tubulointerstitial nephritis
abnormal kidney morphology
abnormal renal tubule morphology
abnormal proximal convoluted tubule morphology
abnormal kidney physiology
decreased renal glomerular filtration rate
abnormal renal reabsorbtion
oliguria
Availability Mouse Genotype
Mmuttm1.1Mrb/Mmuttm1.1Mrb
Mmuttm1Cpv/Mmuttm1Cpv
Mmuttm1Cpv/Mmuttm1Cpv
Tg(Alb-Mut)#Cpv/0
Mmuttm1Pai/Mmuttm1Pai
Mmuttm1Pai/Mmuttm1.1Mrb

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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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory