Phenotypes associated with this allele

• Allele Symbol: Mthfr^tm1Rzn
• Allele Name: targeted mutation 1, Rima Rozen
• Allele ID: MGI:2385823
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Mthfr^tm1Rzn/Mthfr^tm1Rzn	involves: 129S1/Sv * 129X1/SvJ	MGI:5462546
hm2	Mthfr^tm1Rzn/Mthfr^tm1Rzn	involves: 129S1/Sv * 129X1/SvJ * BALB/c	MGI:3574961
hm3	Mthfr^tm1Rzn/Mthfr^tm1Rzn	involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl	MGI:3851392
ht4	Mthfr^tm1Rzn/Mthfr^+	involves: 129S1/Sv * 129X1/SvJ * BALB/c	MGI:3574962
ht5	Mthfr^tm1Rzn/Mthfr^+	involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl	MGI:3851393

Genotype
MGI:5462546

hm1

• Allelic Composition: Mthfr^tm1Rzn/Mthfr^tm1Rzn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

homeostasis/metabolism

abnormal blood homeostasis ( J:165612 )

• increase in plasma cystathionine levels

increased circulating homocysteine level ( J:165612 )

• increase in plasma total homocysteine levels

Genotype
MGI:3574961

hm2

• Allelic Composition: Mthfr^tm1Rzn/Mthfr^tm1Rzn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c

mortality/aging

premature death ( J:67779 )

• 76.4% survived past 5 weeks of age

liver/biliary system

microvesicular hepatic steatosis ( J:67779 )

• some microvesicular steatosis in the liver

growth/size/body

decreased body weight ( J:67779 )

postnatal growth retardation ( J:67779 )

• slower development than normal

homeostasis/metabolism

increased circulating homocysteine level ( J:67779 )

abnormal lipid homeostasis ( J:67779 )

• lipid accumulation in the aorta near the aortic valve but no foam cells

• some microvesicular steatosis in the liver

limbs/digits/tail

short tail ( J:67779 )

kinked tail ( J:67779 )

• sometimes

reproductive system

delayed sexual maturation ( J:67779 )

• delayed maturation of external genitalia but generally fertile

skeleton

kyphosis ( J:67779 )

• occasionally

vision/eye

exophthalmos ( J:67779 )

• among other facial anomalies

nervous system

delaminated Purkinje cell layer ( J:67779 )

• intermingled with granule cells rather than forming a discrete layer

abnormal cerebellar granule layer morphology ( J:67779 )

• diffuse

small cerebellum ( J:67779 )

• as determined in sagittal sections

integument

sparse hair ( J:67779 )

• delayed about 5 days in appearance

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

Genotype
MGI:3851392

hm3

• Allelic Composition: Mthfr^tm1Rzn/Mthfr^tm1Rzn
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:150548 )

N • N-homocysteine levels are normal in the liver and heart and total homocysteine levels are normal in the liver

increased circulating homocysteine level ( J:150548 )

• 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: Mthfr^tm1Rzn/Mthfr⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/c

homeostasis/metabolism

increased circulating homocysteine level ( J:67779 )

abnormal lipid homeostasis ( J:67779 )

• lipid accumulation in the aorta near the aortic valve but no foam cells

• some microvesicular steatosis in the liver

liver/biliary system

microvesicular hepatic steatosis ( J:67779 )

• some microvesicular steatosis in the liver

Genotype
MGI:3851393

ht5

• Allelic Composition: Mthfr^tm1Rzn/Mthfr⁺
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BALB/cAnNCrl

homeostasis/metabolism

increased circulating homocysteine level ( J:150548 )

• plasma N-homocysteine levels are higher than in wild-type mice