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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Mmachc
methylmalonic aciduria cblC type, with homocystinuria
MGI:1914346
40 phenotypes from 5 alleles in 7 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Mmachcem1.1Poche/Mmachcem1.1Poche
involves: C57BL/6J * FVB/N 		abnormal craniofacial morphology J:297666
abnormal embryo turning J:297666
anophthalmia J:297666
decreased fetal size J:297666
heart right ventricle hypoplasia J:297666
lethality throughout fetal growth and development, complete penetrance J:297666
Mmachcem1Poche/Mmachcem1Poche
E2f1Tg(Wnt1-cre)2Sor/E2f1+
involves: 129S4/SvJae * C3H * C57BL/6 * C57BL/6J 		normal craniofacial phenotype J:317822
MmachcGt(AZ0348)Wtsi/Mmachc+
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 		abnormal metabolism J:212387
increased circulating homocysteine level J:212387
transmission ratio distortion J:212387
MmachcGt(AZ0348)Wtsi/Mmachc+
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1 		normal reproductive system phenotype J:212387
MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 		abnormal blastocyst formation J:212387
decreased trophectoderm cell proliferation J:212387
embryonic lethality before implantation, complete penetrance J:212387
failure of blastocyst to hatch from the zona pellucida J:212387
impaired embryo implantation J:212387
MmachcGt(AZ0348)Wtsi/MmachcGt(AZ0348)Wtsi
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6 * CD-1 		embryonic lethality before implantation, complete penetrance J:212387
impaired embryo implantation J:212387
Mmachctm1.1(NCOM)Mfgc/Mmachc+
C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp 		abnormal epididymis morphology J:211773
abnormal lung morphology J:211773
enlarged lymph nodes J:211773
small kidney J:211773
Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
C57BL/6N-Mmachctm1.1(NCOM)Mfgc/Tcp 		abnormal craniofacial morphology J:211773, J:297666
abnormal embryo size J:211773
abnormal embryo turning J:297666
abnormal eye morphology J:211773
abnormal heart ventricle morphology J:297666
abnormal palatal shelf fusion at midline J:297666
abnormal spinal cord morphology J:297666
anophthalmia J:211773, J:297666
decreased embryo size J:297666
decreased fetal size J:297666
edema J:211773
exencephaly J:297666
facial cleft J:211773, J:297666
lethality throughout fetal growth and development, complete penetrance J:297666
microphthalmia J:211773, J:297666
pallor J:211773
polydactyly J:211773
preweaning lethality, complete penetrance J:211773
preweaning lethality, incomplete penetrance J:211773
ventricular septal defect J:297666
Mmachctm1.1(NCOM)Mfgc/Mmachctm1.1(NCOM)Mfgc
Tg(CAG-Mmachc,-GFP)1Poche/0
C57BL/6-Mmachctm1.1(NCOM)Mfgc Tg(CAG-Mmachc,-GFP)1Poche 		normal craniofacial phenotype J:297666
decreased body size J:297666
increased circulating homocysteine level J:297666
increased circulating methylmalonic acid level J:297666
normal nervous system phenotype J:297666
normal vision/eye phenotype J:297666
Tg(CAG-Mmachc,-GFP)1Poche/0
C57BL/6J-Tg(CAG-Mmachc,-GFP)1Poche 		no abnormal phenotype detected J:297666
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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Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory