Phenotypes for Mmachc MGI:6107640 MGI Mouse

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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 (32 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)
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