Analysis Tools
vision/eye
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• at 8 weeks of age, mutant lacrimal glands display numerous infiltrating cells, indicating inflammation
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• at 8 weeks of age, a thicker extra-ocular muscle is observed
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• >80% of adult mutant eyes are small and contain a hypertrophic iris
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small pupil
(
J:175263
)
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• >80% of adult mutant eyes exhibit small pupils
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• frequent iridocorneal fusion is observed
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• frequent iridolenticular fusion is observed
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• at 8 weeks of age, a rough and translucent cornea is observed
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• mutant corneas are thicker than wild-type at P6, P11, P21 and at 10 weeks of age
• however, corneas appear normal at E13.5, E15.5 and E18.5
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• mutant corneal stroma is relatively more intensely stained by PAS, suggesting increased levels of proteoglycans
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• postnatal mutant corneal stroma is hypercellular
• at 8 weeks of age, central corneal stromal thickness and cell density are increased
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• at 8 weeks of age
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• mutant lenses appear spongy and deformed at P6, P11, P21 and at 10 weeks of age
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• at E18.5 and P1, mutant lenses contain significantly fewer epithelial cells in the central anterior region than wild-type controls
• also, fewer and abnormally arranged nuclei are observed in the differentiating equatorial region
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• although mutant primary lens fiber cells appear normal at E13.5 and E15.5, nuclei in E18.5 and P1 lens equatorial regions are disorganized, suggesting defects in secondary fiber formation
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small lens
(
J:175263
)
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• >80% of postnatal mutant lenses are smaller than wild-type
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• at 8 weeks of age, the enucleated mutant eyeballs are relatively smaller than wild-type
• small eyes are noted at P6, P11, P21 and at 10 weeks of age
• >80% of adult mutant eyes show a small eye phenotype
• however, early eye development is relatively normal
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• at P21, mutant eyelashes are irregularly oriented and the surrounding fur is disorganized
• mutant eyelids are swollen and hypercellular and contain fewer irregularly spaced Meibomian gland orifices at the mucocutaneous junction
• the palpebral epidermis is thicker with 7-9 layers of keratinocytes relative to 2-3 in wild-type controls
• mutant eyelids contain significantly enlarged hair follicles and sebaceous glands
• however, no major differences are observed in eyelid morphology at P5, P8 and P11
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eyelid edema
(
J:175263
)
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• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age
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• at P21, mutant Meibomian glands exhibit disorganized, variably sized acini
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• a Meibomian gland bud is noted at P6 suggesting timely induction, but appears disorganized; this feature becomes more prominent at P11 and P21
• at P21, the swollen eyelids are hypercellular and contain severely malformed Meibomian glands with disorganized acini
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• while wild-type eyelids open at P12, mutant eyelids remain closed as late as P21
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• small palpebral fissure at P21
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• at P21, mutants display a >2-fold increase in epithelial cell proliferation in the eyelids, cornea, and conjunctiva, as determined by Ki67 staining
• Ki67-positive cells are significantly increased in mutant palpebral epidermis and eyelid hair follicles
• while Ki67-positive cells are restricted to basal epithelia in wild-type controls, they are also found in the spinous cell layers in the mutant cornea and conjunctiva
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• at 8 weeks of age, mutant lacrimal glands display excessive vasculature and disrupted acinar organization, unlike wild-type controls
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• at 8 weeks of age, mutant lacrimal glands display interspersed dark spots resembling necrotic spots
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• at P21 and at 10 weeks, the mutant conjunctival epithelium appears rough and discontinuous, indicating a disrupted epithelial barrier
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• at P21 and at 10 weeks, conjunctiva goblet cells are absent, unlike in wild-type controls
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• at P21, the mutant palpebral conjunctiva is swollen and inflamed (reddish)
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• at P21 and at 10 weeks, the mutant corneal epithelial basement membrane is thin and discontinuous, unlike in wild-type controls
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cellular
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• at P21, mutants display a >2-fold increase in epithelial cell proliferation in the eyelids, cornea, and conjunctiva, as determined by Ki67 staining
• Ki67-positive cells are significantly increased in mutant palpebral epidermis and eyelid hair follicles
• while Ki67-positive cells are restricted to basal epithelia in wild-type controls, they are also found in the spinous cell layers in the mutant cornea and conjunctiva
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endocrine/exocrine glands
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• at P21, mutant Meibomian glands exhibit disorganized, variably sized acini
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• a Meibomian gland bud is noted at P6 suggesting timely induction, but appears disorganized; this feature becomes more prominent at P11 and P21
• at P21, the swollen eyelids are hypercellular and contain severely malformed Meibomian glands with disorganized acini
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• at P21, mutant sebaceous glands are significantly enlarged
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• at 8 weeks of age, mutant lacrimal glands display excessive vasculature and disrupted acinar organization, unlike wild-type controls
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• at 8 weeks of age, mutant lacrimal glands display interspersed dark spots resembling necrotic spots
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• at P21, an uneven lipid accumulation is noted in the Meibomian gland ducts
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• at 8 weeks of age, mutant lacrimal glands display numerous infiltrating cells, indicating inflammation
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immune system
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• at 8 weeks of age, mutant lacrimal glands display numerous infiltrating cells, indicating inflammation
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integument
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• at P21, mutant Meibomian glands exhibit disorganized, variably sized acini
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• a Meibomian gland bud is noted at P6 suggesting timely induction, but appears disorganized; this feature becomes more prominent at P11 and P21
• at P21, the swollen eyelids are hypercellular and contain severely malformed Meibomian glands with disorganized acini
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• at P21, mutant sebaceous glands are significantly enlarged
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• at P21, an uneven lipid accumulation is noted in the Meibomian gland ducts
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• at P21, mutant eyelids contain significantly enlarged hair follicles
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growth/size/body
eyelid edema
(
J:175263
)
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• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age
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muscle
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• at 8 weeks of age, a thicker extra-ocular muscle is observed
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homeostasis/metabolism
eyelid edema
(
J:175263
)
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• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age
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craniofacial
eyelid edema
(
J:175263
)
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• mutant eyelids are swollen at P6, P11, P21 and at 10 weeks of age
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