About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mthfd1tm1.1Rzn
targeted mutation 1.1, Rima Rozen
MGI:5521203
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mthfd1tm1.1Rzn/Mthfd1tm1.1Rzn B6N.129-Mthfd1tm1.1Rzn MGI:5521284
hm2
Mthfd1tm1.1Rzn/Mthfd1tm1.1Rzn involves: 129S1/Sv * 129X1/SvJ * C57BL/6N MGI:5521283
ht3
Mthfd1tm1.1Rzn/Mthfd1+ involves: 129S1/Sv * 129X1/SvJ * C57BL/6N MGI:5521285


Genotype
MGI:5521284
hm1
Allelic
Composition
Mthfd1tm1.1Rzn/Mthfd1tm1.1Rzn
Genetic
Background
B6N.129-Mthfd1tm1.1Rzn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfd1tm1.1Rzn mutation (0 available); any Mthfd1 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• no mice are present at weaning




Genotype
MGI:5521283
hm2
Allelic
Composition
Mthfd1tm1.1Rzn/Mthfd1tm1.1Rzn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfd1tm1.1Rzn mutation (0 available); any Mthfd1 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryo
• at E7.5 and E8.5
• severe at E10.5
• at E7.5
• size and length at E10.5
• in some mice
• ruffled or kinked in some mice at E10.5
• ruffled or kinked in some mice at E10.5
• few or no somites at E10.5
• few or no somites at E10.5

cardiovascular system

limbs/digits/tail

growth/size/body
• at E7.5 and E8.5
• severe at E10.5
• at E7.5
• size and length at E10.5

nervous system
• in some mice
• ruffled or kinked in some mice at E10.5
• ruffled or kinked in some mice at E10.5




Genotype
MGI:5521285
ht3
Allelic
Composition
Mthfd1tm1.1Rzn/Mthfd1+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * C57BL/6N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfd1tm1.1Rzn mutation (0 available); any Mthfd1 mutation (79 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• mice exhibit normal levels of methionine and choline metabolites
• decreased proportion of 10-formyltetrahydrofolate in the plasma
• decreased dihydrofolate levels in the liver of pregnant female mice
• increased methyl-tetrahydrofolate in the liver of pregnant female mice

immune system
• in pregnant female mice
• in pregnant female mice

growth/size/body
• in female, but not male, mice

cellular
• mouse embryonic fibroblasts exhibit impaired de novo purine synthesis compared with wild-type cells
• regardless of embryonic genotype, maternal synthetase deficiency increases developmental defects in offspring, including turning defects (caudal torque), craniofacial malformation (asymmetric underdevelopment of the telencephalic vesicle) and abnormal tail and limb bud development

hematopoietic system
• in pregnant female mice
• in pregnant female mice





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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support.
last database update
04/30/2024
MGI 6.23
The Jackson Laboratory