All Phenotypes Foxc2<+> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Foxc2^tm1Miu/Foxc2⁺	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J	MGI:3622353
ht2	Foxc2^tm1Blh/Foxc2⁺	involves: 129S6/SvEvTac * Black Swiss	MGI:3811489
cx3	Foxc1^tm1Blh/Foxc1^tm1Blh Foxc2^tm1Blh/Foxc2⁺	involves: 129S6/SvEvTac	MGI:3811363
cx4	Foxc1^tm1Blh/Foxc1^tm1Blh Foxc2^tm1Blh/Foxc2⁺	involves: 129S6/SvEvTac * Black Swiss	MGI:3622548
cx5	Foxc1^tm1Blh/Foxc1⁺ Foxc2^tm1Blh/Foxc2⁺	involves: 129S6/SvEvTac * Black Swiss	MGI:2170671

Allelic Composition	Foxc2^tm1Miu/Foxc2⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc2^tm1Miu mutation (0 available); any Foxc2 mutation (15 available)

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

immune system

abnormal lymph circulation ( J:83436 )

• 20 of 25 heterozygotes exhibit lymph reflux from the cisterna chyli into dilated lymphatic channels within the hepatic hilum, mesentery, mesenteric lymph nodes and the intestinal wall through incompetent interlymphangion valves

increased lymph node number ( J:83436 )

• 23 of 25 heterozygotes exhibit a general increase in the number of lymph nodes throughout the body

enlarged lymph nodes ( J:83436 )

• 23 of 25 heterozygotes exhibit a general increase in the size of lymph nodes throughout the body

abnormal thoracic duct morphology ( J:83436 )

• 2 of 25 heterozygotes display a hyperplastic thoracic duct with several tortuous bifurcations

lymphangiectasis ( J:83436 )

• heteroygotes show multiple dilated capsular lymphatics and significantly expanded lymph node sinuses (lymphangiectasia), occupying up to 50% of nodal volume

lymphatic vessel hyperplasia ( J:83436 )

• 22 of 25 heterozygotes display a variable but significant increase in the number and caliber of peripheral and central deep lymphatic collectors and trunks and in the superficial dermal lymphatics

vision/eye

abnormal eye morphology ( J:83436 )

• 3 of 25 heterozygotes display ocular dysplasia

abnormal orbit morphology ( J:83436 )

• 3 of 36 heterozygotes exhibit only a vestigial dysplastic ocular remnant unilaterally, associated with a malformation of the orbit

cornea abrasion ( J:83436 )

• 2 of 25 heterozygotes display focal corneal abrasions

cataract ( J:83436 )

• 3 of 25 heterozygotes with cloudy eyes display unilateral cataracts

ocular distichiasis ( J:83436 )

• 100% of heterozygotes (24/24) display an extra internal row of eyelashes arising from the sebaceous meibomian glands

blepharoptosis ( J:83436 )

• 2 of 25 heterozygotes display ptosis of the eye

eye opacity ( J:83436 )

• 5 of 36 heterozygotes exhibit cloudy eyes

homeostasis/metabolism

periorbital edema ( J:83436 )

• 2 of 25 heterozygotes exhibit periorbital swelling

extremity edema ( J:83436 )

• 2 of 25 heterozygotes exhibit hindlimb swelling

lymphedema ( J:83436 )

• 2 of 25 heterozygotes exhibit hindlimb lymphedema; however, no effusions (chylous or non-chylous) or peripheral edema are observed

cardiovascular system

abnormal lymph circulation ( J:83436 )

adipose tissue

increased brown adipose tissue amount ( J:83436 )

• heterozygotes exhibit an increased amount of brown fat deposits

craniofacial

abnormal orbit morphology ( J:83436 )

• 3 of 36 heterozygotes exhibit only a vestigial dysplastic ocular remnant unilaterally, associated with a malformation of the orbit

periorbital edema ( J:83436 )

• 2 of 25 heterozygotes exhibit periorbital swelling

skeleton

abnormal orbit morphology ( J:83436 )

• 3 of 36 heterozygotes exhibit only a vestigial dysplastic ocular remnant unilaterally, associated with a malformation of the orbit

growth/size/body

periorbital edema ( J:83436 )

• 2 of 25 heterozygotes exhibit periorbital swelling

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc2^tm1Blh mutation (0 available); any Foxc2 mutation (15 available)

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

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 iris morphology ( J:61775 )

• hypoplastic development

abnormal iris pigment epithelium ( J:61775 )

• thin

iris stroma hypoplasia ( J:61775 )

• thin

pigmentation

abnormal iris pigment epithelium ( J:61775 )

• thin

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc1^tm1Blh mutation (0 available); any Foxc1 mutation (29 available)
Foxc2^tm1Blh mutation (0 available); any Foxc2 mutation (15 available)

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

embryo

embryo phenotype ( J:91443 )

N	• somites develop normally

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

Find Mice

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

mortality/aging

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

• mutant embryos die at ~E11.5

cardiovascular system

cardiovascular system phenotype ( J:71693 )

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

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

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

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