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Symbol
Name
ID

Mmachc
methylmalonic aciduria cblC type, with homocystinuria
MGI:1914346

Phenotype annotations related to craniofacial

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Microcephaly	Long face	High forehead	Smooth philtrum
Disease(s) Associated with MMACHC
methylmalonic aciduria and homocystinuria type cblC

Mouse Phenotypes		craniofacial phenotype	abnormal craniofacial morphology	abnormal palatal shelf fusion at midline	facial cleft
Availability	Mouse Genotype	craniofacial phenotype	abnormal craniofacial morphology	abnormal palatal shelf fusion at midline	facial cleft
	Mmachc^em1.1Poche/Mmachc^em1.1Poche
	Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc^{tm1.1(NCOM)Mfgc}
	Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc^{tm1.1(NCOM)Mfgc} Tg(CAG-Mmachc,-GFP)1Poche/0	*
	Mmachc^em1Poche/Mmachc^em1Poche E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺ (conditional)	*

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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