Phenotypes associated with this allele

• Allele Symbol: Dstn^corn1
• Allele Name: corneal disease 1
• Allele ID: MGI:1889311
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dstn^corn1/Dstn^corn1	A.BY-H2^bc H2-T18^f/SnJ-Dstn^corn1/J	MGI:3817226
hm2	Dstn^corn1/Dstn^corn1	A.BY-H2^bc H2-T18^f/SnJ	MGI:2660804
hm3	Dstn^corn1/Dstn^corn1	involves: A/WySn * brachy stock * C57BL/6JSmn	MGI:3817225
ht4	Dstn^corn1/Dstn^corn1-2J	involves: A/WySn * brachy stock * C57BL/6JSmn	MGI:3817224
cx5	Dstn^corn1/Dstn^corn1 Cxcr2^tm1Mwm/Cxcr2^tm1Mwm	involves: 129S2/SvPas * A/WySn * BALB/c * brachy stock	MGI:3817227
cx6	Cfl1^c5/Cfl1^c5 Dstn^corn1/Dstn^corn1	involves: A/WySn * C57BL/6J	MGI:5473707
cx7	Cfl1^c5/Cfl1^c5 Dstn^corn1/Dstn^+	involves: A/WySn * C57BL/6J	MGI:5473708

Genotype
MGI:3817226

hm1

• Allelic Composition: Dstn^corn1/Dstn^corn1
• Genetic Background: A.BY-H2^bc H2-T18^f/SnJ-Dstn^corn1/J

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

The Dstn^corn1/Dstn^corn1 mouse

vision/eye

abnormal cornea morphology ( J:139239 )

• neutrophil and macrophage infiltration of the cornea

• infiltration by neutrophils is seen by P12 and persists through P28

• neutrophils and macrophages are most abundant in the periphery at P14

immune system

immune system phenotype ( J:139239 )

N • no significant difference is detected in the peripheral blood populations of neutrophils or macrophages compared to controls

Genotype
MGI:2660804

hm2

• Allelic Composition: Dstn^corn1/Dstn^corn1
• Genetic Background: A.BY-H2^bc H2-T18^f/SnJ

vision/eye

cornea vascularization ( J:31798 , J:98465 , J:114973 )

• neovascularization is present in limbus at E18; vascularization grows and reaches center of cornea at 45 days (J:31798)

• hemangiogenesis in the normally avascular cornea is first seen as single sprouts around 2 weeks of age, by 3 weeks of age slit-lamp examination shows outgrowth of limbal blood vessels, and blood vessels cover the corneal surface by approximately 6 weeks of age. (J:98465)

• corneal hemangiogenesis precedes lymphangiogenesis by approximately one week, and there is no corneal blood vessel regression in the first year (J:98465)

• corneal hemangiogenesis and lymphangiogenesis can be inhibited by treatment with an antibody blocking vascular enothelial growht factor receptor 3 (J:98465)

• mice exhibit spontaneous corneal vascularization (J:114973)

• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutants (J:114973)

abnormal cornea epithelium morphology ( J:31798 , J:114973 )

• focal areas ~1 mm in diameter are elevated above corneal surface (J:31798)

• epithelium has "dry", white appearance (J:31798)

• at 12 days of age, mice show mild edema of basal epithelial layers and corneal surface shows irregularities with focal areas ~1 mm in diameter elevated above corneal surface; corneal surface is increasingly roughened and irregular, until 70 days of age when irregularity stabilizes (J:31798)

• surface epithelial cell nuclei are pyknotic and cytoplasm has granular appearance (J:31798)

• eosinophilia is seen in superficial epithelial cells at 12 days of age, but is decreased by 60 days of age (J:31798)

increased cornea epithelium thickness ( J:31798 )

• at 21 and 30 days of age, thickening of epithelium increases

cornea epithelium hyperplasia ( J:83043 )

• at 4 weeks of age the hyperplastic corneal epithelium has altered expression of keratin 14, involucrin, and lumican

cataract ( J:31798 )

• bilateral cataracts develop by 45-50 days of age; progressive lenticular opacification is observed to 8 months of age

• cataracts are manifested by liquefaction of lens fibers and posterior migration of lens epithelial nuclei

cellular

increased cell proliferation ( J:31798 )

• in homozygotes, there are 10-fold more proliferating corneal epithelial cells than in wild-type or heterozygous mice

cardiovascular system

increased angiogenesis ( J:98465 )

• in the cornea

cornea vascularization ( J:31798 , J:98465 , J:114973 )

• neovascularization is present in limbus at E18; vascularization grows and reaches center of cornea at 45 days (J:31798)

• hemangiogenesis in the normally avascular cornea is first seen as single sprouts around 2 weeks of age, by 3 weeks of age slit-lamp examination shows outgrowth of limbal blood vessels, and blood vessels cover the corneal surface by approximately 6 weeks of age. (J:98465)

• corneal hemangiogenesis precedes lymphangiogenesis by approximately one week, and there is no corneal blood vessel regression in the first year (J:98465)

• corneal hemangiogenesis and lymphangiogenesis can be inhibited by treatment with an antibody blocking vascular enothelial growht factor receptor 3 (J:98465)

• mice exhibit spontaneous corneal vascularization (J:114973)

• corneal injection of sflt-1 (secreted isoform of the cell surface receptor membrane-bound Flt1) protein reduces the area of vascularization compared to untreated mutants (J:114973)

immune system

immune system phenotype ( J:98465 )

N • the aqueous humor has a normal protein and leukocyte count indicating that the corneal neovascularization and lymphangiogenesis are not mediated primarily by inflammation

abnormal lymphangiogenesis ( J:98465 )

• Corneal lymphangiogenesis begins with small sprouts around 3 weeks of age, a week after corneal hemangiogenesis begins, and lymphatic vessels are clearly visible by 4 to 6 weeks of age. Vessel fragmentation is seen as early as 2 months of age. Thus, corneal lymphangiogenesis is less severe than hemangiogenesis and comparatively delayed.

• This corneal lymphangiogenesis occurs in a low inflammatory context in which there are only slightly more CD45 positive cells at 4 weeks of age than in controls.

Genotype
MGI:3817225

hm3

• Allelic Composition: Dstn^corn1/Dstn^corn1
• Genetic Background: involves: A/WySn * brachy stock * C57BL/6JSmn

vision/eye

cornea vascularization ( J:83125 )

cornea epithelium hyperplasia ( J:83125 )

• severe epithelial proliferation

cardiovascular system

cornea vascularization ( J:83125 )

Genotype
MGI:3817224

ht4

• Allelic Composition: Dstn^corn1/Dstn^corn1-2J
• Genetic Background: involves: A/WySn * brachy stock * C57BL/6JSmn

vision/eye

vision/eye phenotype ( J:83125 )

N • unlike Dstn^corn1 homozygotes corneal vascularization is not seen

cornea epithelium hyperplasia ( J:83125 )

• epithelial proliferation

Genotype
MGI:3817227

cx5

• Allelic Composition: Dstn^corn1/Dstn^corn1; Cxcr2^tm1Mwm/Cxcr2^tm1Mwm
• Genetic Background: involves: 129S2/SvPas * A/WySn * BALB/c * brachy stock

vision/eye

abnormal cornea morphology ( J:139239 )

• compared to Dstn^corn1 homozygotes with at least one wild type allele of Il8rb, neutrophil recruitment to the cornea is almost completely inhibited; however, macrophages recruitment is still seen

cornea vascularization ( J:139239 )

• the decrease in neutrophil recruitment did not affect corneal vascularization

cardiovascular system

cornea vascularization ( J:139239 )

• the decrease in neutrophil recruitment did not affect corneal vascularization

Genotype
MGI:5473707

cx6

• Allelic Composition: Cfl1^c5/Cfl1^c5; Dstn^corn1/Dstn^corn1
• Genetic Background: involves: A/WySn * C57BL/6J

mortality/aging

embryonic lethality before implantation, complete penetrance ( J:194042 )

• unable to recover embryos at post-implantation stages

Genotype
MGI:5473708

cx7

• Allelic Composition: Cfl1^c5/Cfl1^c5; Dstn^corn1/Dstn⁺
• Genetic Background: involves: A/WySn * C57BL/6J

mortality/aging

embryonic lethality ( J:194042 )

• most arrest prior to node formation

embryo

embryonic growth arrest ( J:194042 )

• most arrest prior to node formation

abnormal primitive node morphology ( J:194042 )

• in the 3 embryos that develop nodes apical trafficking of planar cell polarity proteins is disrupted