All Phenotypes Foxf1<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Foxf1^tm1Rhc/Foxf1⁺	involves: 129P3/J * Black Swiss	MGI:3613577
ht2	Foxf1^tm1Rhc/Foxf1⁺	involves: 129P3/J * Black Swiss * CD-1	MGI:4888586
ht3	Foxf1^em1Vvk/Foxf1⁺	involves: C57BL/6 * DBA/2	MGI:6470789
cn4	Foxf1^tm2Rhc/Foxf1⁺ Tg(Myh11-cre,-EGFP)2Mik/0	involves: C57BL/6 * DBA/2	MGI:5550502

Allelic Composition	Foxf1^tm1Rhc/Foxf1⁺
Genetic Background	involves: 129P3/J * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxf1^tm1Rhc mutation (0 available); any Foxf1 mutation (14 available)

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

mortality/aging

premature death ( J:70364 )

• 5% of surviving pups die within 6 weeks of birth; the remaining 40% with near wild-type levels of Foxf1a expression have normal lifespans

neonatal lethality, incomplete penetrance ( J:70364 )

• 55% of newborns with lower than expected levels of Foxf1a expression die of severe lung hemorrhage within several hours of birth

respiratory system

lung hemorrhage ( J:70364 )

• at P0 but not E18 in mice that exhibit neonatal lethality, severe lung hemorrhage is seen

• red blood cells are detected in peripheral airspaces and in bronchioles

• lung hemorrhage is coincident with disruption of the mesenchymal-epithelial cell interfaces in the alveolar and bronchiolar regions

abnormal lung morphology ( J:70364 )

• apoptotic cells are seen throughout the lung parenchyma, in smooth muscle cells underlying the bronchiolar epithelium, and in arterial smooth muscle cells in mice that exhibit pulmonary hemorrhage

abnormal lung vasculature morphology ( J:70364 )

• impaired development of the alveolar capillaries is observed at birth

impaired lung alveolus development ( J:70364 )

• in mice that exhibit neonatal lethality, sacculation of the lung periphery is reduced indicating a failure to undergo differentiation of the terminal airspaces; a less severe defect in septation of the lung periphery is seen in surviving mice

abnormal lung saccule morphology ( J:70364 )

• reduced sacculation of the lung periphery in mice that exhibit neonatal lethality

respiratory distress ( J:70364 )

• neonates that die shortly after birth have breathing difficulties

abnormal surfactant secretion ( J:70364 )

• reduced surfactant protein B (SP-B) expression in mice that exhibit neonatal lethality

cardiovascular system

abnormal lung vasculature morphology ( J:70364 )

• impaired development of the alveolar capillaries is observed at birth

lung hemorrhage ( J:70364 )

• at P0 but not E18 in mice that exhibit neonatal lethality, severe lung hemorrhage is seen

• red blood cells are detected in peripheral airspaces and in bronchioles

• lung hemorrhage is coincident with disruption of the mesenchymal-epithelial cell interfaces in the alveolar and bronchiolar regions

Allelic Composition	Foxf1^tm1Rhc/Foxf1⁺
Genetic Background	involves: 129P3/J * Black Swiss * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxf1^tm1Rhc mutation (0 available); any Foxf1 mutation (14 available)

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

mortality/aging

neonatal lethality, complete penetrance ( J:76411 )

• neonatal lethality correlates with severe fusion of the right lung lobes and low pulmonary FoxF1a mRNA levels

• a mild fusion between the accessory and caudal lobes is insufficient to cause lethality

respiratory system

abnormal lung vasculature morphology ( J:76411 )

• fusion of embryonic lung lobes is accompanied by misorientation and fusion of the large major pulmonary vessels

abnormal lung development ( J:76411 )

• altered lung-bud orientation and reduced branching morphogenesis is noted at E10.5-E11; a caudal and lateral shift in the orientation of the accessory lobe, and a lateral shift in the middle and cranial lobe positions are commonly observed

• a range of fusion defects in the right pulmonary lobes are noted at E12-E13

• by E18, most embryonic lungs display fusion of the accessory and caudal lobes and abnormal orientation of the accessory lobe

• at E18, ~13% of embryonic lungs exhibit more severe malformations in which the cranial, caudal, and middle lobes are fused

abnormal lung bud morphology ( J:76411 )

• at E11, impaired lung-bud formation is associated with reduced mesenchymal-epithelial interfaces

fused right lung lobes ( J:76411 )

• ~35-50% of heterozygous embryonic and newborn lungs exhibit severe lung fusions in the right lobes; however, only one severely fused lung is noted several days postnatally

• most adult heterozygotes display distinct cranial, middle, and caudal lobes and lack the severely fused lobes seen in embryos

• most adult heterozygotes show a mild fusion between the caudal and accessory right lobes resulting in a lateral shift in the position of the accessory lobe

cardiovascular system

abnormal lung vasculature morphology ( J:76411 )

• fusion of embryonic lung lobes is accompanied by misorientation and fusion of the large major pulmonary vessels

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

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

Allelic Composition	Foxf1^tm2Rhc/Foxf1⁺ Tg(Myh11-cre,-EGFP)2Mik/0
Genetic Background	involves: C57BL/6 * DBA/2

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxf1^tm2Rhc mutation (0 available); any Foxf1 mutation (14 available)
Tg(Myh11-cre,-EGFP)2Mik mutation (1 available)

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

mortality/aging

lethality, incomplete penetrance ( J:203847 )

• no time point given

muscle

abnormal intestinal smooth muscle morphology ( J:203847 )

• slight decreased thickness of the circular smooth muscle layer in the colon

impaired contractility of intestinal smooth muscle ( J:203847 )

• impaired depolarization induced contractility of colonic rings

digestive/alimentary system

abnormal intestinal smooth muscle morphology ( J:203847 )

• slight decreased thickness of the circular smooth muscle layer in the colon

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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