Phenotypes associated with this allele

• Allele Symbol: Mmachc^{Gt(AZ0348)Wtsi}
• Allele Name: gene trap AZ0348, Wellcome Trust Sanger Institute
• Allele ID: MGI:3857614
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mmachc^Gt(AZ0348)Wtsi/Mmachc^Gt(AZ0348)Wtsi	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:6107638
hm2	Mmachc^Gt(AZ0348)Wtsi/Mmachc^Gt(AZ0348)Wtsi	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1	MGI:6107637
ht3	Mmachc^Gt(AZ0348)Wtsi/Mmachc^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6	MGI:6107640
ht4	Mmachc^Gt(AZ0348)Wtsi/Mmachc^+	involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1	MGI:6107639

Genotype
MGI:6107638

hm1

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

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

cellular

decreased trophectoderm cell proliferation ( J:212387 )

• compromised generation of giant cells in blastocysts developed from E3.5 conceptuses in vitro

embryo

decreased trophectoderm cell proliferation ( J:212387 )

• compromised generation of giant cells in blastocysts developed from E3.5 conceptuses in vitro

abnormal blastocyst formation ( J:212387 )

• delayed blastocyst formation of E3.5 conceptuses in vitro

failure of blastocyst to hatch from the zona pellucida ( J:212387 )

• blastocysts developed from E3.5 conceptuses in vitro

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:212387 )

• expected Mendelian ratio with heterozygous crosses at E3.5

• no homozygous KOs post-implantation

reproductive system

impaired embryo implantation ( J:212387 )

• no homozygous KOs post-implantation

Genotype
MGI:6107637

hm2

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

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:212387 )

• expected Mendelian ratio with heterozygous crosses at E3.5

• no homozygous KOs post-implantation

reproductive system

impaired embryo implantation ( J:212387 )

• no homozygous KOs post-implantation

Genotype
MGI:6107640

ht3

• 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

ht4

• 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