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Phenotypes Associated with This Genotype
Genotype
MGI:3622353
Allelic
Composition
Foxc2tm1Miu/Foxc2+
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6 * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxc2tm1Miu mutation (0 available); any Foxc2 mutation (7 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
immune system
• 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
• 23 of 25 heterozygotes exhibit a general increase in the number of lymph nodes throughout the body
• 23 of 25 heterozygotes exhibit a general increase in the size of lymph nodes throughout the body
• 2 of 25 heterozygotes display a hyperplastic thoracic duct with several tortuous bifurcations
• heteroygotes show multiple dilated capsular lymphatics and significantly expanded lymph node sinuses (lymphangiectasia), occupying up to 50% of nodal volume
• 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
• 3 of 25 heterozygotes display ocular dysplasia
• 3 of 36 heterozygotes exhibit only a vestigial dysplastic ocular remnant unilaterally, associated with a malformation of the orbit
• 2 of 25 heterozygotes exhibit periorbital swelling
• 2 of 25 heterozygotes display focal corneal abrasions
• 3 of 25 heterozygotes with cloudy eyes display unilateral cataracts
• 100% of heterozygotes (24/24) display an extra internal row of eyelashes arising from the sebaceous meibomian glands
• 2 of 25 heterozygotes display ptosis of the eye
• 5 of 36 heterozygotes exhibit cloudy eyes

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

cardiovascular system
• 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

adipose tissue
• heterozygotes exhibit an increased amount of brown fat deposits

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

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

Mouse Models of Human Disease
OMIM ID Ref(s)
Lymphedema-Distichiasis Syndrome 153400 J:83436


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory