Phenotypes associated with this allele

• Allele Symbol: Mmachc⁺
• Allele Name: wild type
• Allele ID: MGI:3611383
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Mmachc^tm1.1(NCOM)Mfgc/Mmachc^+	C57BL/6N-Mmachc^tm1.1(NCOM)Mfgc/Tcp	MGI:5797657
ht2	Mmachc^Gt(AZ0348)Wtsi/Mmachc^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:6107640
ht3	Mmachc^Gt(AZ0348)Wtsi/Mmachc^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1	MGI:6107639

Genotype
MGI:5797657

ht1

• Allelic Composition: Mmachc^{tm1.1(NCOM)Mfgc}/Mmachc⁺
• Genetic Background: C57BL/6N-Mmachc^{tm1.1(NCOM)Mfgc}/Tcp
• Cell Lines: N01876P1_C_178W_A10

Data Sources

IMPC Data for Mmachc

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

immune system

enlarged lymph nodes ( J:211773 )

♂

IMPC - TCP

renal/urinary system

small kidney ( J:211773 )

♂

IMPC - TCP

reproductive system

abnormal epididymis morphology ( J:211773 )

♂

IMPC - TCP

respiratory system

abnormal lung morphology ( J:211773 )

IMPC - TCP

Genotype
MGI:6107640

ht2

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

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

Genotype
MGI:6107639

ht3

• Allelic Composition: Mmachc^{Gt(AZ0348)Wtsi}/Mmachc⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1
• Cell Lines: AZ0348

reproductive system

reproductive system phenotype ( J:212387 )

N • no parental allele effect on heterozygote-to-wildtype ratio in litter of wildtype-heterozygous crossings