Phenotypes associated with this allele

• Allele Symbol: Mthfd1^tm1.1Rzn
• Allele Name: targeted mutation 1.1, Rima Rozen
• Allele ID: MGI:5521203
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn	B6N.129-Mthfd1^tm1.1Rzn	MGI:5521284
hm2	Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N	MGI:5521283
ht3	Mthfd1^tm1.1Rzn/Mthfd1^+	involves: 129S1/Sv * 129X1/SvJ * C57BL/6N	MGI:5521285

Genotype
MGI:5521284

hm1

• Allelic Composition: Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn
• Genetic Background: B6N.129-Mthfd1^tm1.1Rzn

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

mortality/aging

preweaning lethality, complete penetrance ( J:199578 )

• no mice are present at weaning

Genotype
MGI:5521283

hm2

• Allelic Composition: Mthfd1^tm1.1Rzn/Mthfd1^tm1.1Rzn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:199578 )

• mice are not viable beyond E10.5

embryo

embryonic growth retardation ( J:199578 )

• at E7.5 and E8.5

• severe at E10.5

decreased embryo size ( J:199578 )

• at E7.5

• size and length at E10.5

abnormal neural tube closure ( J:199578 )

• at E10.5

open neural tube ( J:199578 )

• in some mice

kinked neural tube ( J:199578 )

• ruffled or kinked in some mice at E10.5

wavy neural tube ( J:199578 )

• ruffled or kinked in some mice at E10.5

impaired somite development ( J:199578 )

• few or no somites at E10.5

absent somites ( J:199578 )

• few or no somites at E10.5

abnormal tail bud morphology ( J:199578 )

small tail bud ( J:199578 )

cardiovascular system

abnormal heart morphology ( J:199578 )

limbs/digits/tail

abnormal tail bud morphology ( J:199578 )

small tail bud ( J:199578 )

growth/size/body

embryonic growth retardation ( J:199578 )

• at E7.5 and E8.5

• severe at E10.5

decreased embryo size ( J:199578 )

• at E7.5

• size and length at E10.5

nervous system

abnormal neural tube closure ( J:199578 )

• at E10.5

open neural tube ( J:199578 )

• in some mice

kinked neural tube ( J:199578 )

• ruffled or kinked in some mice at E10.5

wavy neural tube ( J:199578 )

• ruffled or kinked in some mice at E10.5

Genotype
MGI:5521285

ht3

• Allelic Composition: Mthfd1^tm1.1Rzn/Mthfd1⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6N

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:199578 )

N • mice exhibit normal levels of methionine and choline metabolites

abnormal folic acid level ( J:199578 )

• 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

decreased leukocyte cell number ( J:199578 )

♀ • in pregnant female mice

decreased neutrophil cell number ( J:199578 )

♀ • in pregnant female mice

growth/size/body

increased body weight ( J:199578 )

♀ • in female, but not male, mice

cellular

abnormal cell physiology ( J:199578 )

• mouse embryonic fibroblasts exhibit impaired de novo purine synthesis compared with wild-type cells

maternal effect ( J:199578 )

♀ • 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

decreased leukocyte cell number ( J:199578 )

♀ • in pregnant female mice

decreased neutrophil cell number ( J:199578 )

♀ • in pregnant female mice