Phenotypes for Mmachc MGI:6107640 MGI Mouse

About Help FAQ

Phenotypes Associated with This Genotype

Allelic Composition	Mmachc^{Gt(AZ0348)Wtsi}/Mmachc⁺
Genetic Background	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6
Cell Lines	AZ0348

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mmachc^{Gt(AZ0348)Wtsi} mutation (0 available); any Mmachc mutation (30 available)

♀	phenotype observed in females
♂	phenotype observed in males
N	normal phenotype

homeostasis/metabolism

increased circulating homocysteine level ( J:212387 )

• hyperhomocysteinemia in plasma

abnormal metabolism ( J:212387 )

• increased levels of methylmalonic acid in plasma (methylmalonic academia; MMA)

reproductive system

transmission ratio distortion ( J:212387 , J:212387 )

	• heterozygote-to-wildtype ratio in litter of wildtype male to heterozygous female crossings (J:212387)
	• higher than expected number of heterozygotes in litter of wildtype female to heterozygous male crossings (J:212387)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
methylmalonic aciduria and homocystinuria type cblC		DOID:0050715	OMIM:277400	J:212387

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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23