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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Foxc1tm1Blh
targeted mutation 1, Brigid L Hogan
MGI:1857869
Summary 17 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Foxc1tm1Blh/Foxc1tm1Blh involves: 129S6/SvEvTac MGI:3811362
hm2
Foxc1tm1Blh/Foxc1tm1Blh involves: 129S6/SvEvTac * Black Swiss MGI:2177671
ht3
Foxc1tm1Blh/Foxc1+ 129S6/SvEvTac-Foxc1tm1Blh MGI:3811484
ht4
Foxc1tm1Blh/Foxc1+ B6.Cg-Foxc1tm1Blh MGI:3655827
ht5
Foxc1tm1Blh/Foxc1+ involves: 129S6/SvEvTac * Black Swiss MGI:3811488
ht6
Foxc1tm1Blh/Foxc1+ involves: 129S6/SvEvTac * C57BL/6J MGI:3811486
ht7
Foxc1tm1Blh/Foxc1+ involves: 129S6/SvEvTac * CAST/Ei MGI:3811485
ht8
Foxc1hith/Foxc1tm1Blh involves: 129S6/SvEvTac * C57BL/6J MGI:4437878
cn9
Foxc1tm1Tsku/Foxc1tm1Blh
Tg(Tek-cre)1Rwng/0
involves: 129S6/SvEvTac * FVB/N MGI:3798681
cx10
Foxc1tm1Blh/Foxc1+
Tyrc-2J/Tyrc-2J
B6.Cg-Tyrc-2J Foxc1tm1Blh MGI:3655825
cx11
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2tm1Blh
involves: 129S6/SvEvTac MGI:3811359
cx12
Foxc1tm1Blh/Foxc1+
Foxc2tm1Blh/Foxc2tm1Blh
involves: 129S6/SvEvTac MGI:3811361
cx13
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2+
involves: 129S6/SvEvTac MGI:3811363
cx14
Foxc1tm1Blh/Foxc1+
Foxc2tm1Blh/Foxc2+
involves: 129S6/SvEvTac * Black Swiss MGI:2170671
cx15
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2tm1Blh
involves: 129S6/SvEvTac * Black Swiss MGI:2170676
cx16
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2+
involves: 129S6/SvEvTac * Black Swiss MGI:3622548
cx17
Foxc1tm1Blh/Foxc1+
Foxc2tm1Blh/Foxc2tm1Blh
involves: 129S6/SvEvTac * Black Swiss MGI:3622549


Genotype
MGI:3811362
hm1
Allelic
Composition
Foxc1tm1Blh/Foxc1tm1Blh
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E14.5, the number of intermediate progenitor cells is decreased compared to in wild-type mice
• at E14.5, neuron proliferation in the cortex is reduced compared to in wild-type mice
• at E12.5, dorsal forebrain lengthening is observed unlike in wild-type mice
• at E14.5, the dorsal forebrain is longer and thinner than in wild-type mice
• however, treatment with all-trans retinoic acid restores forebrain morphology
• at E18.5, cortical layers are disorganized compared to in wild-type mice
• at E14.5, meningeal cells end before the ventral forebrain with absent dorsal meninges unlike in wild-type mice

embryo
N
• somites develop normally

cellular
• at E14.5, the number of intermediate progenitor cells is decreased compared to in wild-type mice
• at E14.5, neuron proliferation in the cortex is reduced compared to in wild-type mice




Genotype
MGI:2177671
hm2
Allelic
Composition
Foxc1tm1Blh/Foxc1tm1Blh
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutants die soon after birth due to an inability to breathe (J:57677)
• mice die at birth (J:105944)

reproductive system
• large follicle cysts, several of which are hemorrhagic, develop when ovaries are engrafted into a wild-type host
• ovaries contain fewer germ cells that are found in clusters scattered throughout the ovary unlike in wild-type mice
• after 8 weeks of engraftment into a wild-type host, ovaries display oocyte degeneration or loss
• between E10.5 and E11.5, fewer than normal primordial germ cells migrate out of the hindgut resulting in fewer germ cells entering the developing gonads
• however, germ cell attractants are normally expressed
• ovaries lack distinct cortex and medulla regions as in wild-type ovaries
• granulosa and thecal cell layers as well as the basement membrane separating the two are less well defined than in wild-type mice
• after 8 weeks, ovaries engrafted into a wild-type host often contain polyovular follicles and contain regions of cells not organized into follicles-like structures unlike in wild-type mice
• by week 8 after engraftment into a wild-type host, 1 of 4 ovaries contain Seroli cells tubule-like structures
• at E18.5, mutant ovaries lack a distinct cortex region
• by 8 weeks of engraftment into a wild-type host, remaining healthy follicles are larger than in wild-type mice
• when ovaries are transplanted into a wild-type host, follicles fail to progress beyond the pre-antral/early antral stages
• after 8 weeks, ovaries engrafted into a wild-type host often contain polyovular follicles and contain regions of cells not organized into follicles-like structures unlike in wild-type mice
• at E18.5, mutant ovaries lack a distinct medulla region
• at E18.5, mutant ovaries are smaller than wild-type
• large follicle cysts, several of which are hemorrhagic, develop when ovaries are engrafted into a wild-type host
• seminiferous cords are present but interspersed with regions of disorganized cells where no cords are apparent
• at E18.5, testes exhibit a reduced tunica albuginea
• the oviduct is shorter than normal and uncoiled
• by E14.5, gonads are reduced compared to in wild-type mice
• mice exhibit smaller and misshapen gonads, especially in the posterior regions, compared to in wild-type mice

embryo
• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
• mice exhibit a reduction in the posterior mesonephros with abnormal indentation
• at E14.5, the mesonephric tissues remain enlarged compared to in wild-type mice
• ectopic mesonephric tubules persist up to E18.5

skeleton
• newborns have extinsive abnormalities in the skull, vertebrae, thorax, hyoid, larynx, and appendicular skeleton
• in newborns the basisphenoid bone is reduced and malformed
• in newborns the calvarial bones are absent
• the zygomatic process is enlarged and fused to the mandible
• in newborns the digits are thinner than normal with smaller ossification centers
• in newborns the deltoid process of the humerus is misshapen
• in newborns the xiphoid process is misshapen
• the absence of the sternum presumably contributes to the inability of these mutants to breath
• in newborns the ribs are thinner than normal
• in newborns the dorsal neural arches fail to fuse along the whole vetebral column
• in newborns the lateral arches are reduced
• at E16.5 and birth the neural arches are misshapen and have reduced ossification
• in newborns the vetebral bodies are reduced
• ossification of some of bones is impaired
• in newborns all of the ossification centers of the sternum except the manubrium are absent
• at E13.5 the mesenchyme cells condense much less than in wild-type

vision/eye
• at E18.5, lactimal ducts are distended; the overall length of the gland duct is significantly reduced
• at E18.5, the exorbital lobe is severely reduced compared to in wild-type mice
• significantly fewer branches and terminal buds are observed within the exorbital lobe
• at E18.5, the intra-orbital lacrimal gland is absent
• at E16.5, branches of the lacrimal gland are shorter and wider with fewer terminal buds than in wild-type mice
• lacrimal gland explants have fewer branches with terminal buds that are longer and wider than in wild-type lacrimal explants
• however, lacrimal gland epithelium differentiation is normal
• lacrimal gland mesenchyme is insensitive to Bmp7 treatment unlike wild-type mesenchyme
• however, lacrimal gland epithelium proliferation in response to FGF is normal
• reduced number of mesenchymal cells in the future stromal region
• the arrangement of cells within the cornea is disorganized
• fails to differentiate normally
• cells become enlarged and separated from one another by microvilli lined spaces
• comes to be composed of more cell layers than normal
• significantly reduced in size
• the eyelids are not fused at birth
• at E18.5, the lacrimal ducts are distended with individual buds shorter and wider than in wild-type mice
• the length of the ducts and number of terminal buds are reduced compared to in wild-type mice

cardiovascular system
• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
• coarctation of the arch of the aorta is found at E11.5 and in newborns (3 out of 5 and 6 out of 11, respectively)
• at E13.5 and 16.5 interruption of the arch of the aorta is found (2 out of 3 and 2 out of 6 respectively)
• the ductus arteriosus connecting the aorta to the pulmonary artery fails to close in all newborns
• ventricular septal defects are found at E13.5, E16.5 and in newborns (2 out of 6; 2 out of 3; 8 out of 11, respectively)
• in newborns the normal number of leaflets is found but these are thickened and partially fused (8 out of 11)
• in newborns the normal number of leaflets is found but these are thickened and partially fused (8 out of 11)
• large follicle cysts, several of which are hemorrhagic, develop when ovaries are engrafted into a wild-type host
• at E14.5 the integrity of some blood vessels in the brain is disrupted and the surrounding area is acellular

craniofacial
• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
• in newborns the basisphenoid bone is reduced and malformed
• in newborns the calvarial bones are absent
• the zygomatic process is enlarged and fused to the mandible

homeostasis/metabolism
• 30% of embryos collected between E17.5 and E18.5 are dead or edematous (5 out of 15)

limbs/digits/tail
• in newborns the digits are thinner than normal with smaller ossification centers
• in newborns the deltoid process of the humerus is misshapen

nervous system
• at E14.5 the integrity of some blood vessels in the brain is disrupted and the surrounding area is acellular
• by E11.5 the brain size is clearly increased in mutants
• at E14.5 the integrity of some blood vessels in the brain is disrupted and the surrounding area is acellular

endocrine/exocrine glands
• large follicle cysts, several of which are hemorrhagic, develop when ovaries are engrafted into a wild-type host
• at E18.5, lactimal ducts are distended; the overall length of the gland duct is significantly reduced
• at E18.5, the exorbital lobe is severely reduced compared to in wild-type mice
• significantly fewer branches and terminal buds are observed within the exorbital lobe
• at E18.5, the intra-orbital lacrimal gland is absent
• at E16.5, branches of the lacrimal gland are shorter and wider with fewer terminal buds than in wild-type mice
• lacrimal gland explants have fewer branches with terminal buds that are longer and wider than in wild-type lacrimal explants
• however, lacrimal gland epithelium differentiation is normal
• ovaries lack distinct cortex and medulla regions as in wild-type ovaries
• granulosa and thecal cell layers as well as the basement membrane separating the two are less well defined than in wild-type mice
• after 8 weeks, ovaries engrafted into a wild-type host often contain polyovular follicles and contain regions of cells not organized into follicles-like structures unlike in wild-type mice
• by week 8 after engraftment into a wild-type host, 1 of 4 ovaries contain Seroli cells tubule-like structures
• at E18.5, mutant ovaries lack a distinct cortex region
• by 8 weeks of engraftment into a wild-type host, remaining healthy follicles are larger than in wild-type mice
• when ovaries are transplanted into a wild-type host, follicles fail to progress beyond the pre-antral/early antral stages
• after 8 weeks, ovaries engrafted into a wild-type host often contain polyovular follicles and contain regions of cells not organized into follicles-like structures unlike in wild-type mice
• at E18.5, mutant ovaries lack a distinct medulla region
• at E18.5, mutant ovaries are smaller than wild-type
• large follicle cysts, several of which are hemorrhagic, develop when ovaries are engrafted into a wild-type host
• seminiferous cords are present but interspersed with regions of disorganized cells where no cords are apparent
• at E18.5, testes exhibit a reduced tunica albuginea
• lacrimal gland mesenchyme is insensitive to Bmp7 treatment unlike wild-type mesenchyme
• however, lacrimal gland epithelium proliferation in response to FGF is normal

renal/urinary system
• seen in 1 of 49 mice
• seen in 1 of 49 mice

cellular
• the ductus arteriosus connecting the aorta to the pulmonary artery fails to close in all newborns
• ovaries contain fewer germ cells that are found in clusters scattered throughout the ovary unlike in wild-type mice
• after 8 weeks of engraftment into a wild-type host, ovaries display oocyte degeneration or loss
• between E10.5 and E11.5, fewer than normal primordial germ cells migrate out of the hindgut resulting in fewer germ cells entering the developing gonads
• however, germ cell attractants are normally expressed

growth/size/body
• large follicle cysts, several of which are hemorrhagic, develop when ovaries are engrafted into a wild-type host
• at E18.5, no bursa membrane can be detected, unlike in wild-type ovaries




Genotype
MGI:3811484
ht3
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Genetic
Background
129S6/SvEvTac-Foxc1tm1Blh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: incidence and severity of anterior segment abnormalities varies with strain background
• 2 of 8 mice had obvious anterior segment abnormalities at 11 months of age
• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle
• abnormalities include large blood vessels and iris strands
• small or absent
• in some areas the canal of Schlemm is absent, in others it is relatively normal but contains fewer giant vacuoles, and in still others it has a normal appearance
• areas may be hypoplastic or absent
• in some places the trabecular meshwork appears compressed
• some areas where the trabecular meshwork is absent contain cells that resemble mesenchymal precursor cells
• some abnormal areas show a decrease in the amount of extracellular matrix components present
• at 11 months of age in 2 of 8 mice, the left pupil in was eccentric
• seen in the left eyes of 2 of 8 mice at 11 months of age
• at 11 months of age in 1 of 8 mice in the right eye, the focal region of the peripheral cornea was opaque and resemble sclera




Genotype
MGI:3655827
ht4
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Genetic
Background
B6.Cg-Foxc1tm1Blh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• pigmented mice had mild developmental defects than compared to albino Tyrc-2J/Tyrc-2J, Foxc1tm1Blh /Foxc1+ mice
• mild hypoplasia

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
buphthalmos DOID:11211 OMIM:231300
J:82280




Genotype
MGI:3811488
ht5
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• Background Sensitivity: incidence and severity of anterior segment abnormalities varies with strain background
• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle
• abnormalities include large blood vessels and iris strands
• areas may be hypoplastic or absent
• in some places the trabecular meshwork appears compressed
• 1 of 20 mice had abnormal processes extending from the iris
• eccentric pupil present in 1 of 20 mice
• seen in 1 of 20 mice
• hypoplastic development

pigmentation




Genotype
MGI:3811486
ht6
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• despite abnormalities intraocular pressure is not increased
• Background Sensitivity: incidence and severity of anterior segment abnormalities varies with strain background
• at N2 4 of 12 mice had anterior segment abnormalities
• at N3 and higher generations, 20 of 21 mice had anterior segment abnormalities
• 17 of 24 affected mice had abnormalities in both eyes
• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle
• abnormalities include large blood vessels and iris strands
• areas may be hypoplastic or absent
• in some places the trabecular meshwork appears compressed
• some areas where the trabecular meshwork is absent contain cells that resemble mesenchymal precursor cells
• displaced and/or enlarged
• tears are present
• severely misplaced in some mice
• some mice had irregular pupils with normal locations others have irregular pupils with iris tears
• scleralization of the peripheral cornea
• iris strands are frequently attached to the cornea




Genotype
MGI:3811485
ht7
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Genetic
Background
involves: 129S6/SvEvTac * CAST/Ei
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
N
• Background Sensitivity: unlike mice on other backgrounds no clinical anterior segment abnormalities are seen in mice crossed onto the CAST/Ei background
• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle
• abnormalities include large blood vessels and iris strands
• areas may be hypoplastic or absent
• in some places the trabecular meshwork appears compressed
• some areas where the trabecular meshwork is absent contain cells that resemble mesenchymal precursor cells




Genotype
MGI:4437878
ht8
Allelic
Composition
Foxc1hith/Foxc1tm1Blh
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1hith mutation (0 available); any Foxc1 mutation (29 available)
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• at E14.5, the number of intermediate progenitor cells is decreased compared to in wild-type mice
• at E14.5, neuron proliferation in the cortex is reduced compared to in wild-type mice
• at E12.5, dorsal forebrain lengthening is observed unlike in wild-type mice
• at E14.5, the dorsal forebrain is longer and thinner than in wild-type mice
• however, treatment with all-trans retinoic acid restores forebrain morphology
• at E18.5, cortical layers are disorganized compared to in wild-type mice
• at E14.5, the lateral meninges are reduced and the dorsal meninges are absent unlike in wild-type mice

cellular
• at E14.5, the number of intermediate progenitor cells is decreased compared to in wild-type mice
• at E14.5, neuron proliferation in the cortex is reduced compared to in wild-type mice




Genotype
MGI:3798681
cn9
Allelic
Composition
Foxc1tm1Tsku/Foxc1tm1Blh
Tg(Tek-cre)1Rwng/0
Genetic
Background
involves: 129S6/SvEvTac * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc1tm1Tsku mutation (0 available); any Foxc1 mutation (29 available)
Tg(Tek-cre)1Rwng mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
cellular
• isolated pulmonary microvascular endothelial cells exhibit a significant reduction in chemotactic migration towards Cxcl12




Genotype
MGI:3655825
cx10
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Tyrc-2J/Tyrc-2J
Genetic
Background
B6.Cg-Tyrc-2J Foxc1tm1Blh
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Tyrc-2J mutation (25 available); any Tyr mutation (375 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• albino mice had severe and more extensive angle developmental defects than pigmented Foxc1tm1Blh /Foxc1+ mice
• a small or absent Schlemm's canal
• basal lamina extending from the cornea over the trabecular meshwork
• broad synechiae occupies the region where the trabecular meshwork is normally located

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
buphthalmos DOID:11211 OMIM:231300
J:82280




Genotype
MGI:3811359
cx11
Allelic
Composition
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2tm1Blh
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2tm1Blh mutation (0 available); any Foxc2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
N
• despite the lack of somites, proliferation and apoptosis rates of paraxial mesoderm are normal
• at E9.5, mesonephric tissue is expanded and disorganized compared to in wild-type mice
• mice exhibit ectopic expression of intermediate mesoderm markers leading to increased lateralization of somites
• mice lack somites




Genotype
MGI:3811361
cx12
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Foxc2tm1Blh/Foxc2tm1Blh
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2tm1Blh mutation (0 available); any Foxc2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
• at E9.5, mesonephric tissue is expanded and disorganized compared to in wild-type mice
• somites are very narrow and irregular




Genotype
MGI:3811363
cx13
Allelic
Composition
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2tm1Blh mutation (0 available); any Foxc2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
embryo
N
• somites develop normally




Genotype
MGI:2170671
cx14
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Foxc2tm1Blh/Foxc2+
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2tm1Blh mutation (0 available); any Foxc2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• most embryos die between E14.5 and birth
• double heterozygotes shown signs of cardiac failure between E13.5 and E15.5

cardiovascular system
• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
• coarctation of the arch of the aorta is found in 8 of 17 embryos at E13.5
• at E12.5 and 13.5 type B interruption of the arch of the aorta is seen
• the number of coronary vessels is decreased in embryos examined between E15.5 and E17.5
• in embryos collected between E13.5 and E15.5 the superior caval veins are overexpanded
• the thickness of the myocardium of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5
• the extent of trabeculations of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5
• the membraneous portion of the ventricular septum fails to fuse at E13.5 (15 out of 17)
• at E13.5 dysplasia of the semilunar valves is found (8 out of 17)
• the leaflets are thickened and partially fused
• at E13.5 dysplasia of the semilunar valves is found (8 out of 17)
• the leaflets are thickened and partially fused

homeostasis/metabolism
• 65% of embryos collected between E13.5 and E15.5 are edematous

liver/biliary system
• the fetal liver is enlarged and engorged with blood

renal/urinary system
• 26% of newborn double heterozygotes display hydronephrosis
• 7 of 19 newborn double heterozygotes have hypoplastic kidneys (less than 3/4 of wild-type length)
• hypoplastic kidneys are either unilateral (71%) or bilateral (29%)
• 5% of newborn double heterozygotes show renal agenesis
• 1 of 19 newborn double heterozygotes had a duplex kidney and double ureters
• 1 of 19 newborn double heterozygotes had a duplex kidney and double ureters
• 13 of 19 double heterozygotes have a single hydroureter
• hydroureter is either unilateral (85%) or bilateral (15%)
• at E10.5, 2 of 3 double heterozygotes show a much broader outgrowth of the ureteric bud
• at E11.0, 3 of 4 double heterozygotes exhibit an ectopic ureteric bud

skeleton
N
• no gross malformations of the vertebral column, ribs, or skull are found

embryo
• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4
• double heterozygotes display extra mesonephric tubules distributed caudally between somites 16 and 23

vision/eye
• abnormalities similar to those in Foxc1tm1Blh heterozygotes are seen
• areas may be hypoplastic or absent
• intermittent abnormalities are seen
• more severely affected than in either single heterozygote
• almost completely absent in some areas
• corneal ulcers and immune cell infiltrates are present in some eyes
• present in some eyes
• in some cases

muscle
• the thickness of the myocardium of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5
• the extent of trabeculations of the ventricles is decreased in all double heterozygotes between E13.5 and E17.5

craniofacial
• major malformations in the branchial arch arteries and heart are found in all double heterozygotes
• in 2 of 3 embryos examined on E10.5 and 11.5 a blister like defect is seen on the wall of left arch artery 4

growth/size/body
• the fetal liver is enlarged and engorged with blood




Genotype
MGI:2170676
cx15
Allelic
Composition
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2tm1Blh
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2tm1Blh mutation (0 available); any Foxc2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• double homozygotes die at ~E9.0-E9.5 with a much more severe phenotype than that of either single homozygote alone

cardiovascular system
• at E9.0, most blood vessels are still organized into primitive plexi; no blood vessels have sprouted from the dorsal aorta
• at E9.0, double homozygotes exhibit a dilated dorsal aorta with blood accumulated probably as a result of a weakly beating heart
• at E9.0, double homozygotes show a disorganized myocardium
• at E9.0, double homozygotes display a small heart
• at E9.5, double homozygotes occasionally display an enlarged pericardial sac
• at E9.0, double homozygotes display a weak heartbeat

craniofacial
• at E9.0, double homozygotes have very small first branchial arches
• at E9.0, double homozygotes completely lack a second branchial arch and have a very small first branchial arch
• dense accumulations of mesenchymal cells with pycnotic nuclei are detected in place of a second branchial arch

embryo
• at E9.0, double homozygotes have very small first branchial arches
• at E9.0, double homozygotes completely lack a second branchial arch and have a very small first branchial arch
• dense accumulations of mesenchymal cells with pycnotic nuclei are detected in place of a second branchial arch
• at E9.5, double homozygotes are significantly smaller than wild-type embryos
• at E9.0, double homozygotes display absence of segmented paraxial mesoderm
• sparse mesenchyme
• at E9.5, double homozygotes usually display an open anterior neural tube
• at E9.0, sections at the level of the first branchial arch reveal ectopic epithelial tubes that may represent endoderm that would have formed branchial pouches
• at E9.5, double homozygotes fail to establish A/P domains in the anterior presomitic mesoderm
• at E9.5, double homozygotes display absence of segmented, epithelialized somites, including dermamyotome, in the trunk region
• absence of the most anterior somites (1-8) indicates a defect in early somitogenesis
• at E9.0, double mutant yolk sacs contain only enlarged vessels in a primitive plexus that has undergone very little remodeling; no small blood vessels are present

growth/size/body
• at E9.5, double homozygotes are significantly smaller than wild-type embryos
• at E9.0, double homozygotes show a disorganized head structure, including sparse mesenchyme and enlarged blood vessels
• sparse mesenchyme

nervous system
• at E9.5, double homozygotes usually display an open anterior neural tube

muscle
• at E9.0, double homozygotes show a disorganized myocardium




Genotype
MGI:3622548
cx16
Allelic
Composition
Foxc1tm1Blh/Foxc1tm1Blh
Foxc2tm1Blh/Foxc2+
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2tm1Blh mutation (0 available); any Foxc2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
N
• at E9.5, mutant embryos display no obvious defects in remodeling of blood vessels; however, an in-depth phenotype analysis is warranted




Genotype
MGI:3622549
cx17
Allelic
Composition
Foxc1tm1Blh/Foxc1+
Foxc2tm1Blh/Foxc2tm1Blh
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2tm1Blh mutation (0 available); any Foxc2 mutation (15 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant embryos die at ~E10.5, with a more severe phenotype than that of double heterozygotes or either single homozygote alone

cardiovascular system
• at E10.5, mutant embryos show extensive defects in the remodeling of blood vessels in the head and body
• at E10.5, mutant embryos exhibit variable and multiple branchial arch artery abnormalities, including an enlarged third BA artery with an ectopic branch, thin BA arteries, and generally disorganized BA arteries
• enlarged in some mice

craniofacial
• at E10.5, mutant embryos exhibit variable and multiple branchial arch artery abnormalities, including an enlarged third BA artery with an ectopic branch, thin BA arteries, and generally disorganized BA arteries
• enlarged in some mice
• at E10.5, mutant embryos lack a second branchial arch

embryo
• at E10.5, mutant embryos exhibit variable and multiple branchial arch artery abnormalities, including an enlarged third BA artery with an ectopic branch, thin BA arteries, and generally disorganized BA arteries
• enlarged in some mice
• at E10.5, mutant embryos lack a second branchial arch
• at E10.5, mutant embryos have abnormally shaped somites
• at E10.5, mutant embryos have abnormally small somites





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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory