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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Mthfrtm1Rzn
targeted mutation 1, Rima Rozen
MGI:2385823
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Mthfrtm1Rzn/Mthfrtm1Rzn involves: 129S1/Sv * 129X1/SvJ MGI:5462546
hm2
Mthfrtm1Rzn/Mthfrtm1Rzn involves: 129S1/Sv * 129X1/SvJ * BALB/c MGI:3574961
hm3
Mthfrtm1Rzn/Mthfrtm1Rzn involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl MGI:3851392
ht4
Mthfrtm1Rzn/Mthfr+ involves: 129S1/Sv * 129X1/SvJ * BALB/c MGI:3574962
ht5
Mthfrtm1Rzn/Mthfr+ involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl MGI:3851393


Genotype
MGI:5462546
hm1
Allelic
Composition
Mthfrtm1Rzn/Mthfrtm1Rzn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfrtm1Rzn mutation (2 available); any Mthfr mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• increase in plasma cystathionine levels
• increase in plasma total homocysteine levels




Genotype
MGI:3574961
hm2
Allelic
Composition
Mthfrtm1Rzn/Mthfrtm1Rzn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfrtm1Rzn mutation (2 available); any Mthfr mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 76.4% survived past 5 weeks of age

liver/biliary system
• some microvesicular steatosis in the liver

growth/size/body
• slower development than normal

homeostasis/metabolism
• lipid accumulation in the aorta near the aortic valve but no foam cells
• some microvesicular steatosis in the liver

limbs/digits/tail
• sometimes

reproductive system
• delayed maturation of external genitalia but generally fertile

skeleton
• occasionally

vision/eye
• among other facial anomalies

nervous system
• intermingled with granule cells rather than forming a discrete layer
• as determined in sagittal sections

integument
• delayed about 5 days in appearance

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
neural tube defect DOID:0080074 OMIM:182940
OMIM:301410
OMIM:601634
J:67779




Genotype
MGI:3851392
hm3
Allelic
Composition
Mthfrtm1Rzn/Mthfrtm1Rzn
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfrtm1Rzn mutation (2 available); any Mthfr mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
N
• N-homocysteine levels are normal in the liver and heart and total homocysteine levels are normal in the liver
• plasma N-homocysteine levels are higher than in heterozygous or wild-type mice
• total plasma homocysteine level is mildly elevated compared to in heterozygous and wild-type mice




Genotype
MGI:3574962
ht4
Allelic
Composition
Mthfrtm1Rzn/Mthfr+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/c
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfrtm1Rzn mutation (2 available); any Mthfr mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• lipid accumulation in the aorta near the aortic valve but no foam cells
• some microvesicular steatosis in the liver

liver/biliary system
• some microvesicular steatosis in the liver




Genotype
MGI:3851393
ht5
Allelic
Composition
Mthfrtm1Rzn/Mthfr+
Genetic
Background
involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mthfrtm1Rzn mutation (2 available); any Mthfr mutation (24 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
homeostasis/metabolism
• plasma N-homocysteine levels are higher than in wild-type mice





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/19/2019
MGI 6.13
The Jackson Laboratory