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Symbol
Name
ID
Mmachc
methylmalonic aciduria cblC type, with homocystinuria
MGI:1914346
Phenotype annotations related to vision/eye
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Pigmentary retinopathy
Nystagmus
Visual impairment
Reduced visual acuity
Disease(s) Associated with MMACHC
methylmalonic aciduria and homocystinuria type cblC

Mouse Phenotypes
vision/eye phenotype
abnormal eye morphology
microphthalmia
anophthalmia
Availability Mouse Genotype
Mmachcem1.1Poche/Mmachcem1.1Poche
Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Tg(CAG-Mmachc,-GFP)1Poche/0
*

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
04/23/2024
MGI 6.23
The Jackson Laboratory