Phenotypes associated with this allele

• Allele Symbol: Foxf1^em1Vvk
• Allele Name: endonuclease-mediated mutation 1, Vladimir V Kalinichenko
• Allele ID: MGI:6469362
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Foxf1^em1Vvk/Foxf1^em1Vvk	involves: C57BL/6 * DBA/2	MGI:6470791
ht2	Foxf1^em1Vvk/Foxf1^+	involves: C57BL/6 * DBA/2	MGI:6470789

Genotype
MGI:6470791

hm1

• Allelic Composition: Foxf1^em1Vvk/Foxf1^em1Vvk
• Genetic Background: involves: C57BL/6 * DBA/2

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

mortality/aging

embryonic lethality, complete penetrance ( J:296328 )

• early embryonic lethality

Genotype
MGI:6470789

ht2

• Allelic Composition: Foxf1^em1Vvk/Foxf1⁺
• Genetic Background: involves: C57BL/6 * DBA/2

mortality/aging

postnatal lethality, incomplete penetrance ( J:296328 )

• 72% mortality rate by 1 month of age

respiratory system

abnormal lung vasculature morphology ( J:296328 )

• embryos show loss of microvascular network in the peripheral lung

lung hemorrhage ( J:296328 )

• newborn lungs show hemorrhage

• accumulation of fibrin in alveolar regions and pulmonary bronchioles consistent with persistent vascular leak and hemorrhage

• nanoparticle-mediated delivery of STAT3 to newborns decreases lung inflammation

decreased lung endothelial cell proliferation ( J:296328 )

• proliferation of endothelial cells is reduced in the lungs

• nanoparticle-mediated delivery of STAT3 to newborns (into the facial vein) restores pulmonary endothelial proliferation

lung inflammation ( J:296328 )

• newborn lungs show pulmonary inflammation

fused right lung lobes ( J:296328 )

• lungs of newborn mice exhibit fusion of the right lobes

small lung ( J:296328 )

• lungs of newborn mice are smaller

pulmonary hypoplasia ( J:296328 )

abnormal pulmonary alveolus morphology ( J:296328 )

• surviving mice exhibit alveolar simplification

• nanoparticle-mediated delivery of STAT3 to newborns improves alveogenesis

cardiovascular system

abnormal pulmonary artery morphology ( J:296328 )

• newborn lungs show hypertrophy of pulmonary arteries

abnormal lung vasculature morphology ( J:296328 )

• embryos show loss of microvascular network in the peripheral lung

decreased angiogenesis ( J:296328 )

• newborns show reduced lung angiogenesis

• nanoparticle-mediated delivery of STAT3 to newborns stimulates angiogenesis in the lungs

abnormal pulmonary vein morphology ( J:296328 )

• newborns and embryos show multiple veins close to airways and arteries, a feature of misalignment of pulmonary veins seen in patients with alveolar capillary dysplasia with misalignment of pulmonary veins

lung hemorrhage ( J:296328 )

• newborn lungs show hemorrhage

• accumulation of fibrin in alveolar regions and pulmonary bronchioles consistent with persistent vascular leak and hemorrhage

• nanoparticle-mediated delivery of STAT3 to newborns decreases lung inflammation

cellular

decreased lung endothelial cell proliferation ( J:296328 )

• proliferation of endothelial cells is reduced in the lungs

• nanoparticle-mediated delivery of STAT3 to newborns (into the facial vein) restores pulmonary endothelial proliferation

endocrine/exocrine glands

abnormal gallbladder morphology ( J:296328 )

• gallbladders are either absent or underdeveloped

• however, no histologic abnormalities in the trachea, heart, kidney, and intestine are seen

absent gallbladder ( J:296328 )

• in some mice

growth/size/body

weight loss ( J:296328 )

• progressive decrease of body weight during the postnatal period

immune system

lung inflammation ( J:296328 )

• newborn lungs show pulmonary inflammation

liver/biliary system

abnormal gallbladder morphology ( J:296328 )

• gallbladders are either absent or underdeveloped

• however, no histologic abnormalities in the trachea, heart, kidney, and intestine are seen

absent gallbladder ( J:296328 )

• in some mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
persistent fetal circulation syndrome		DOID:13042	OMIM:265380	J:296328