Phenotypes associated with this allele

• Allele Symbol: Foxc1⁺
• Allele Name: wild type
• Allele ID: MGI:1857870
• Summary: 12 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Foxc1^tm1Blh/Foxc1^+	129S6/SvEvTac-Foxc1^tm1Blh	MGI:3811484
ht2	Foxc1^tm1Blh/Foxc1^+	B6.Cg-Foxc1^tm1Blh	MGI:3655827
ht3	Foxc1^ch/Foxc1^+	CHMU/Le	MGI:3811487
ht4	Foxc1^tm1Blh/Foxc1^+	involves: 129S6/SvEvTac * Black Swiss	MGI:3811488
ht5	Foxc1^tm1Blh/Foxc1^+	involves: 129S6/SvEvTac * C57BL/6J	MGI:3811486
ht6	Foxc1^tm1Blh/Foxc1^+	involves: 129S6/SvEvTac * CAST/Ei	MGI:3811485
ht7	Foxc1^ch/Foxc1^+	involves: C57BL/6 * CHMU/Le	MGI:3811565
ht8	Foxc1^ch/Foxc1^+	involves: CBA * STOCK Tyr^c f	MGI:3813455
cx9	Foxc1^tm1Blh/Foxc1^+ Tyr^c-2J/Tyr^c-2J	B6.Cg-Tyr^c-2J Foxc1^tm1Blh	MGI:3655825
cx10	Foxc1^tm1Blh/Foxc1^+ Foxc2^tm1Blh/Foxc2^tm1Blh	involves: 129S6/SvEvTac	MGI:3811361
cx11	Foxc1^tm1Blh/Foxc1^+ Foxc2^tm1Blh/Foxc2^+	involves: 129S6/SvEvTac * Black Swiss	MGI:2170671
cx12	Foxc1^tm1Blh/Foxc1^+ Foxc2^tm1Blh/Foxc2^tm1Blh	involves: 129S6/SvEvTac * Black Swiss	MGI:3622549

Genotype
MGI:3811484

ht1

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺
• Genetic Background: 129S6/SvEvTac-Foxc1^tm1Blh

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

vision/eye

abnormal anterior eye segment morphology ( J:61775 )

• 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

abnormal iridocorneal angle ( J:61775 )

• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle

• abnormalities include large blood vessels and iris strands

abnormal canal of Schlemm morphology ( J:61775 )

• 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

abnormal trabecular meshwork morphology ( J:61775 )

• 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

abnormal placement of pupils ( J:61775 )

• at 11 months of age in 2 of 8 mice, the left pupil in was eccentric

irregularly shaped pupil ( J:61775 )

• seen in the left eyes of 2 of 8 mice at 11 months of age

abnormal cornea morphology ( J:61775 )

• 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

ht2

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺
• Genetic Background: B6.Cg-Foxc1^tm1Blh

vision/eye

abnormal aqueous drainage system morphology ( J:82280 )

• pigmented mice had mild developmental defects than compared to albino Tyr^c-2J/Tyr^c-2J, Foxc1^tm1Blh /Foxc1⁺ mice

hypoplastic trabecular meshwork ( J:82280 )

• mild hypoplasia

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

Genotype
MGI:3811487

ht3

• Allelic Composition: Foxc1^ch/Foxc1⁺
• Genetic Background: CHMU/Le

vision/eye

vision/eye phenotype ( J:61775 )

N • despite these abnormalities intraocular pressure is rarely increased

abnormal anterior eye segment morphology ( J:61775 )

• 48 of 51 had clinically detectable abnormalities with 40 mice having bilateral abnormalities

cornea vascularization ( J:61775 )

• present in some older mice

abnormal iridocorneal angle ( J:61775 )

• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle

• abnormalities include large blood vessels and iris strands

abnormal canal of Schlemm morphology ( J:61775 )

• small or absent

absent Schlemm's canal ( J:61775 )

• small or absent

abnormal trabecular meshwork morphology ( J:61775 )

• 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

abnormal ciliary process morphology ( J:61775 )

• short and thin ciliary processes in some mice

ciliary body hypoplasia ( J:61775 )

• some eyes have a focally hypoplastic ciliary body with short and thin ciliary processes

mydriasis ( J:61775 )

• some have very large pupils resembling the phenotype associated with aniridia

anterior iris synechia ( J:61775 )

• tend to be more severe than in Foxc1^tm1Blh heterozygotes on a C57BL/6J containing background

cataract ( J:61775 )

• seen in about 25% of mice and the incidence increase with age

cardiovascular system

cornea vascularization ( J:61775 )

• present in some older mice

Genotype
MGI:3811488

ht4

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

vision/eye

abnormal anterior eye segment morphology ( J:61775 )

• Background Sensitivity: incidence and severity of anterior segment abnormalities varies with strain background

abnormal iridocorneal angle ( J:61775 )

• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle

• abnormalities include large blood vessels and iris strands

abnormal canal of Schlemm morphology ( J:61775 )

• small or absent

abnormal trabecular meshwork morphology ( J:61775 )

• areas may be hypoplastic or absent

• in some places the trabecular meshwork appears compressed

abnormal iris morphology ( J:61775 )

• 1 of 20 mice had abnormal processes extending from the iris

abnormal iris pigment epithelium ( J:61775 )

• thin

abnormal placement of pupils ( J:61775 )

• eccentric pupil present in 1 of 20 mice

irregularly shaped pupil ( J:61775 )

• seen in 1 of 20 mice

iris hypoplasia ( J:61775 )

• hypoplastic development

iris stroma hypoplasia ( J:61775 )

• thin

pigmentation

abnormal iris pigment epithelium ( J:61775 )

• thin

Genotype
MGI:3811486

ht5

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

vision/eye

vision/eye phenotype ( J:61775 )

N • despite abnormalities intraocular pressure is not increased

abnormal anterior eye segment morphology ( J:61775 )

• 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

abnormal iridocorneal angle ( J:61775 )

• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle

• abnormalities include large blood vessels and iris strands

abnormal canal of Schlemm morphology ( J:61775 )

• small or absent

abnormal trabecular meshwork morphology ( J:61775 )

• 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

abnormal line of Schwalbe morphology ( J:61775 )

• displaced and/or enlarged

abnormal iris morphology ( J:61775 )

• tears are present

abnormal placement of pupils ( J:61775 )

• severely misplaced in some mice

irregularly shaped pupil ( J:61775 )

• some mice had irregular pupils with normal locations others have irregular pupils with iris tears

abnormal cornea morphology ( J:61775 )

• scleralization of the peripheral cornea

anterior iris synechia ( J:61775 )

• iris strands are frequently attached to the cornea

cataract ( J:61775 )

Genotype
MGI:3811485

ht6

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺
• Genetic Background: involves: 129S6/SvEvTac * CAST/Ei

vision/eye

vision/eye phenotype ( J:61775 )

N • Background Sensitivity: unlike mice on other backgrounds no clinical anterior segment abnormalities are seen in mice crossed onto the CAST/Ei background

abnormal iridocorneal angle ( J:61775 )

• most eyes contain morphologically normal and abnormal regions of the iridocorneal angle

• abnormalities include large blood vessels and iris strands

abnormal canal of Schlemm morphology ( J:61775 )

• small or absent

abnormal trabecular meshwork morphology ( J:61775 )

• 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:3811565

ht7

• Allelic Composition: Foxc1^ch/Foxc1⁺
• Genetic Background: involves: C57BL/6 * CHMU/Le

renal/urinary system

duplex kidney ( J:60834 )

• seen in 1 of 15 mice

bifid ureter ( J:60834 )

• seen in 1 of 15 mice

Genotype
MGI:3813455

ht8

• Allelic Composition: Foxc1^ch/Foxc1⁺
• Genetic Background: involves: CBA * STOCK Tyr^c f

nervous system

nervous system phenotype ( J:5191 )

N • unlike homozygotes, no cases of hydrocephalus are seen

renal/urinary system

abnormal renal/urinary system morphology ( J:5191 )

• at 4 weeks of age about 1/6 of mice have urogenital abnormalities

abnormal kidney vasculature morphology ( J:5191 )

• abnormal arrangement of the renal arteries and veins may be seen at P0 but with a lower incidence compared to homozygotes

abnormal right renal artery morphology ( J:5191 )

• at 4 weeks of age about 50% of mice have an abnormal right renal artery

hydronephrosis ( J:5191 )

• incidence is less than that in homozygotes

hydroureter ( J:5191 )

• incidence is less than that in homozygotes

reproductive system

abnormal reproductive system morphology ( J:5191 )

• at 4 weeks of age about 1/6 of mice have urogenital abnormalities

ectopic ovary ( J:5191 )

♀ • may be located more anteriorly than in controls

♀ • this occurs with a lower incidence compared to homozygotes

ectopic testis ( J:5191 )

♂ • may be located more anteriorly than in controls

♂ • this occurs with a lower incidence compared to homozygotes

skeleton

abnormal foramen magnum morphology ( J:5191 )

• the border of the foramen magnum at the suture between the supraoccipital and exoccipital is slightly concave rather than straight or slightly convex as in controls

abnormal thyroid cartilage morphology ( J:5191 )

• may have defects on the ventral side

abnormal sternum morphology ( J:5191 )

• in some mice at 4 weeks of age, the anterior and posterior halves of the sternum consist of separate bones

abnormal cervical atlas morphology ( J:5191 )

• the neural canal is wider and more rounded at its ventral border and the lateral vertebral foramen is often open dorsolaterally

craniofacial

abnormal foramen magnum morphology ( J:5191 )

• the border of the foramen magnum at the suture between the supraoccipital and exoccipital is slightly concave rather than straight or slightly convex as in controls

respiratory system

abnormal thyroid cartilage morphology ( J:5191 )

• may have defects on the ventral side

endocrine/exocrine glands

ectopic ovary ( J:5191 )

♀ • may be located more anteriorly than in controls

♀ • this occurs with a lower incidence compared to homozygotes

ectopic testis ( J:5191 )

♂ • may be located more anteriorly than in controls

♂ • this occurs with a lower incidence compared to homozygotes

cardiovascular system

abnormal kidney vasculature morphology ( J:5191 )

• abnormal arrangement of the renal arteries and veins may be seen at P0 but with a lower incidence compared to homozygotes

abnormal right renal artery morphology ( J:5191 )

• at 4 weeks of age about 50% of mice have an abnormal right renal artery

Genotype
MGI:3655825

cx9

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺; Tyr^c-2J/Tyr^c-2J
• Genetic Background: B6.Cg-Tyr^c-2J Foxc1^tm1Blh

vision/eye

abnormal aqueous drainage system morphology ( J:82280 )

• albino mice had severe and more extensive angle developmental defects than pigmented Foxc1^tm1Blh /Foxc1⁺ mice

absent Schlemm's canal ( J:82280 )

• a small or absent Schlemm's canal

abnormal trabecular meshwork morphology ( J:82280 )

• basal lamina extending from the cornea over the trabecular meshwork

iris synechia ( J:82280 )

• 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:3811361

cx10

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺; Foxc2^tm1Blh/Foxc2^tm1Blh
• Genetic Background: involves: 129S6/SvEvTac

embryo

abnormal mesonephros morphology ( J:91443 )

• at E9.5, mesonephric tissue is expanded and disorganized compared to in wild-type mice

abnormal somite shape ( J:91443 )

• somites are very narrow and irregular

Genotype
MGI:2170671

cx11

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺; Foxc2^tm1Blh/Foxc2⁺
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:57677 )

• most embryos die between E14.5 and birth

• double heterozygotes shown signs of cardiac failure between E13.5 and E15.5

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:57677 )

• major malformations in the branchial arch arteries and heart are found in all double heterozygotes

abnormal fourth pharyngeal arch artery morphology ( J:57677 )

• 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

aortic arch coarctation ( J:57677 )

• coarctation of the arch of the aorta is found in 8 of 17 embryos at E13.5

interrupted aortic arch, type b ( J:57677 )

• at E12.5 and 13.5 type B interruption of the arch of the aorta is seen

decreased angiogenesis ( J:57677 )

• the number of coronary vessels is decreased in embryos examined between E15.5 and E17.5

abnormal superior vena cava morphology ( J:57677 )

• in embryos collected between E13.5 and E15.5 the superior caval veins are overexpanded

ventricle myocardium hypoplasia ( J:57677 )

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

trabecula carnea hypoplasia ( J:57677 )

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

perimembraneous ventricular septal defect ( J:57677 )

• the membraneous portion of the ventricular septum fails to fuse at E13.5 (15 out of 17)

abnormal aortic valve morphology ( J:57677 )

• at E13.5 dysplasia of the semilunar valves is found (8 out of 17)

thick aortic valve cusps ( J:57677 )

• the leaflets are thickened and partially fused

abnormal pulmonary valve morphology ( J:57677 )

• at E13.5 dysplasia of the semilunar valves is found (8 out of 17)

thick pulmonary valve cusps ( J:57677 )

• the leaflets are thickened and partially fused

cornea vascularization ( J:61775 )

homeostasis/metabolism

hydrops fetalis ( J:57677 )

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

liver/biliary system

enlarged liver ( J:57677 )

• the fetal liver is enlarged and engorged with blood

renal/urinary system

hydronephrosis ( J:60834 )

• 26% of newborn double heterozygotes display hydronephrosis

renal hypoplasia ( J:60834 )

• 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%)

absent kidney ( J:60834 )

• 5% of newborn double heterozygotes show renal agenesis

duplex kidney ( J:60834 )

• 1 of 19 newborn double heterozygotes had a duplex kidney and double ureters

double ureter ( J:60834 )

• 1 of 19 newborn double heterozygotes had a duplex kidney and double ureters

hydroureter ( J:60834 )

• 13 of 19 double heterozygotes have a single hydroureter

• hydroureter is either unilateral (85%) or bilateral (15%)

abnormal branching involved in ureteric bud morphogenesis ( J:60834 )

• at E10.5, 2 of 3 double heterozygotes show a much broader outgrowth of the ureteric bud

ectopic ureteric bud ( J:60834 )

• at E11.0, 3 of 4 double heterozygotes exhibit an ectopic ureteric bud

skeleton

skeleton phenotype ( J:57677 )

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

embryo

abnormal pharyngeal arch artery morphology ( J:57677 )

• major malformations in the branchial arch arteries and heart are found in all double heterozygotes

abnormal fourth pharyngeal arch artery morphology ( J:57677 )

• 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

abnormal mesonephros morphology ( J:60834 )

• double heterozygotes display extra mesonephric tubules distributed caudally between somites 16 and 23

vision/eye

abnormal iridocorneal angle ( J:61775 )

• abnormalities similar to those in Foxc1^tm1Blh heterozygotes are seen

abnormal canal of Schlemm morphology ( J:61775 )

• small or absent

abnormal trabecular meshwork morphology ( J:61775 )

• areas may be hypoplastic or absent

abnormal ciliary body morphology ( J:61775 )

• intermittent abnormalities are seen

abnormal iris morphology ( J:61775 )

• more severely affected than in either single heterozygote

iris stroma hypoplasia ( J:61775 )

• almost completely absent in some areas

abnormal cornea morphology ( J:61775 )

• corneal ulcers and immune cell infiltrates are present in some eyes

cornea vascularization ( J:61775 )

cornea ulcer ( J:61775 )

• present in some eyes

eyelids open at birth ( J:61775 )

• in some cases

muscle

ventricle myocardium hypoplasia ( J:57677 )

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

trabecula carnea hypoplasia ( J:57677 )

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

craniofacial

abnormal pharyngeal arch artery morphology ( J:57677 )

• major malformations in the branchial arch arteries and heart are found in all double heterozygotes

abnormal fourth pharyngeal arch artery morphology ( J:57677 )

• 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

enlarged liver ( J:57677 )

• the fetal liver is enlarged and engorged with blood

Genotype
MGI:3622549

cx12

• Allelic Composition: Foxc1^tm1Blh/Foxc1⁺; Foxc2^tm1Blh/Foxc2^tm1Blh
• Genetic Background: involves: 129S6/SvEvTac * Black Swiss

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:71693 )

• mutant embryos die at ~E10.5, with a more severe phenotype than that of double heterozygotes or either single homozygote alone

cardiovascular system

abnormal vascular development ( J:71693 )

• at E10.5, mutant embryos show extensive defects in the remodeling of blood vessels in the head and body

abnormal pharyngeal arch artery morphology ( J:71693 )

• 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 third pharyngeal arch artery ( J:71693 )

• enlarged in some mice

craniofacial

abnormal pharyngeal arch artery morphology ( J:71693 )

• 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 third pharyngeal arch artery ( J:71693 )

• enlarged in some mice

absent second pharyngeal arch ( J:71693 )

• at E10.5, mutant embryos lack a second branchial arch

embryo

abnormal pharyngeal arch artery morphology ( J:71693 )

• 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 third pharyngeal arch artery ( J:71693 )

• enlarged in some mice

absent second pharyngeal arch ( J:71693 )

• at E10.5, mutant embryos lack a second branchial arch

abnormal somite shape ( J:71693 )

• at E10.5, mutant embryos have abnormally shaped somites

decreased somite size ( J:71693 )

• at E10.5, mutant embryos have abnormally small somites