Phenotypes associated with this allele

• Allele Symbol: F2r^tm2Cgh
• Allele Name: targeted mutation 2, Shaun R Coughlin
• Allele ID: MGI:4430880
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	F2r^tm2Cgh/F2r^tm2Cgh	involves: 129S4/SvJae * C57BL/6	MGI:4431050
cx2	F2r^tm2Cgh/F2r^+ F2rl1^tm2Cgh/F2rl1^+	involves: 129S4/SvJae * C57BL/6	MGI:4438083

Genotype
MGI:4431050

hm1

• Allelic Composition: F2r^tm2Cgh/F2r^tm2Cgh
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

mortality/aging

decreased survivor rate ( J:157446 )

• 4.6-4.7% of expected numbers of double null animals from a parental cross of double heterozygotes are observed at P14; survivors to P14 exhibit a normal lifespan and are fertile

• when double heterozygous mice are bred to double null animals, around 7.6% of expected survivors are observed at P14, suggesting a survival-enhancing modifier transmitted by viable double null mice

• Background Sensitivity: on a 129/Sv background, no viable animals are found at P14, while on a predominantly C57BL/6 background, about 1.4% of expected numbers of double null animals are found

• Background Sensitivity: when animals are backcrossed to outbred ICR mice, animals are observed at 6.4% of expected numbers

lethality throughout fetal growth and development, incomplete penetrance ( J:157446 )

• some embryos display death by late gestation associated with edema; this is one of three partially penetrant phenotypes observed in double null mice

• on the same background, late gestational lethality is observed infrequently in F2rl1-deficient embryos and not in F2r-null embryos

embryo

spina bifida ( J:157446 )

• some animals surviving embryonic development display spina bifida (incompletely penetrant phenotype), indicating defective closure of the posterior neuropore

cardiovascular system

abnormal cardiovascular system physiology ( J:157446 )

• some mutants exhibit midgestational cardiovascular failure beginning at 9.5 days post coitus; this is one of three partially penetrant phenotypes observed in double null mice

nervous system

spina bifida ( J:157446 )

• some animals surviving embryonic development display spina bifida (incompletely penetrant phenotype), indicating defective closure of the posterior neuropore

exencephaly ( J:157446 )

• some animals display exencephaly (incompletely penetrant phenotype) by gross inspection at 11.5 days post coitus indicating defective closure of the hindbrain neuropore; this is detected in 47% of embryos from double heterozygous by double null crosses at 9.5 dpc (32% of embryos that have progressed to the 15-somite stage)

• this is one of three partially penetrant phenotypes observed in double null mice

• on the same background, exencephaly is not observed in F2r-null embryos

homeostasis/metabolism

edema ( J:157446 )

• widespread edema is associated with late gestational lethality in some mutants

limbs/digits/tail

curly tail ( J:157446 )

• some double null animals surviving postnatal exhibit curly tails

Genotype
MGI:4438083

cx2

• Allelic Composition: F2r^tm2Cgh/F2r⁺; F2rl1^tm2Cgh/F2rl1⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6

embryo

incomplete rostral neuropore closure ( J:157446 )

• 22% of embryos from double heterozygous by double null crosses have open hindbrain neuropores at 9.5 days post coitus (dpc)

nervous system

incomplete rostral neuropore closure ( J:157446 )

• 22% of embryos from double heterozygous by double null crosses have open hindbrain neuropores at 9.5 days post coitus (dpc)