Analysis Tools
vision/eye
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• 75% of mutants surviving to weaning age display eye defects
• between days 12.5-17.5, 73% of embryos display eye defects
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|
• 73% of mice at weaning show unilateral or bilateral microphthalmia
• unilateral or bilateral microphthalmia is observed in 59.6% of embryos analyzed between 12.5-17.5 dpc
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anophthalmia
(
J:142649
)
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• anophthalmia is observed in 16.7% of embryos analyzed between 12.5-17.5 dpc
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endocrine/exocrine glands
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• embryos with normal eyes up to embryos with bilateral anophthalmia but with a normal telencephalon have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the single pituitary phenotype observed in these animals
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|
• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location
• pituitary defects are fully penetrant
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nervous system
|
• embryos with normal eyes up to embryos with bilateral anophthalmia but with a normal telencephalon have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the single pituitary phenotype observed in these animals
|
|
• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location
• pituitary defects are fully penetrant
|
craniofacial
|
• at 15.5-17.5 dpc, some embryos exhibit severe craniofacial defects
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| septooptic dysplasia | DOID:0060857 |
OMIM:182230 |
J:142649 | |
