Mthfd1 Phenotype Annotations

Mammalian Phenotype Ontology Annotations
Query Results - Summary

Symbol
Name
ID

Mthfd1
methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase
MGI:1342005

26 phenotypes from 3 alleles in 5 genetic backgrounds

Allelic Composition Genetic Background	Annotated Term	Reference
Mthfd1^Gt(XB175)Byg/Mthfd1⁺ involves: 129P2/OlaHsd * C57BL/6	abnormal amino acid level	J:146083
	abnormal enzyme/coenzyme level	J:146083
	abnormal nucleotide metabolism	J:146083
	increased body weight	J:146083
Mthfd1^Gt(XB175)Byg/Mthfd1^Gt(XB175)Byg B6.129P2-Mthfd1^Gt(XB175)Byg	embryonic lethality, complete penetrance	J:146083
Mthfd1^tm1.1Rzn/Mthfd1⁺ involves: 129S1/Sv * 129X1/SvJ * C57BL/6N	abnormal cell physiology	J:199578
	abnormal folic acid level	J:199578
	decreased leukocyte cell number	J:199578
	decreased neutrophil cell number	J:199578
	normal homeostasis/metabolism phenotype	J:199578
	increased body weight	J:199578
	maternal effect	J:199578
Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn B6N.129-Mthfd1^tm1.1Rzn	preweaning lethality, complete penetrance	J:199578
Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn involves: 129S1/Sv * 129X1/SvJ * C57BL/6N	abnormal heart morphology	J:199578
	abnormal neural tube closure	J:199578
	abnormal tail bud morphology	J:199578
	absent somites	J:199578
	decreased embryo size	J:199578
	embryonic growth retardation	J:199578
	embryonic lethality during organogenesis, complete penetrance	J:199578
	impaired somite development	J:199578
	kinked neural tube	J:199578
	open neural tube	J:199578
	small tail bud	J:199578
	wavy neural tube	J:199578
Mthfd1^{tm2b(KOMP)Wtsi}/Mthfd1⁺ C57BL/6N-Mthfd1^{tm2b(KOMP)Wtsi}/Bay	decreased circulating serum albumin level	J:211773
Mthfd1^{tm2b(KOMP)Wtsi}/Mthfd1^{tm2b(KOMP)Wtsi} C57BL/6N-Mthfd1^{tm2b(KOMP)Wtsi}/Bay	embryonic lethality prior to organogenesis	J:211773
	preweaning lethality, complete penetrance	J:211773

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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