Analysis Tools
mortality/aging
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• at weaning, less than 5% of animals are homozygous mutants instead of expected 25%
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vision/eye
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• all surviving homozygotes display eye defects, typically bilateral microphthalmia or anophthalmia
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anophthalmia
(
J:142649
)
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• all surviving homozygotes display eye defects, typically bilateral microphthalmia or anophthalmia
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endocrine/exocrine glands
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• pituitary defects are fully penetrant
|
|
• some have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the pituitary phenotype observed in some (>50%) animals
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• in some embryos at 12.5 dpc, development of Rathke's pouch is delayed (by about 1 day); pouch remains embedded within oral ectoderm and appears rostrally expanded
• this is the type II phenotype, always associated with a lack of anterior forebrain tissue
|
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• type II phenotype is associated with a delay in Rathke's pouch development, impaired basisphenoid cartilage development, and ectopic pituitary in the nasopharynx
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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
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nervous system
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• embryos at 17.5 dpc and surviving adult mutants exhibit abnormal development of telencephalic commissural tracts
|
|
• agenesis or hypoplasia is observed in embryos at 17.5 dpc and surviving adults (78%)
|
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• forebrain defects are observed
|
|
• pituitary defects are fully penetrant
|
|
• some have an enlarged, bifurcated anterior pituitary, often connected to the oral cavity
• this is the type I phenotype, which is the pituitary phenotype observed in some (>50%) animals
|
|
• in some embryos at 12.5 dpc, development of Rathke's pouch is delayed (by about 1 day); pouch remains embedded within oral ectoderm and appears rostrally expanded
• this is the type II phenotype, always associated with a lack of anterior forebrain tissue
|
|
• type II phenotype is associated with a delay in Rathke's pouch development, impaired basisphenoid cartilage development, and ectopic pituitary in the nasopharynx
|
|
• in embryos displaying severe craniofacial defects at 15.5-17.5 dpc, a defined pituitary gland can not be recognized at its normal location
|
|
• reduced anterior forebrain tissue is found associated with Rathke's pouch abnormalities
|
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• significant reduction in telencephalic tissue is detected in severely affected embryos
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• telencephalic vesicles are normal in some embryos but are reduced in other embryos
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• agenesis or hypoplasia is observed in embryos at 17.5 dpc and surviving adults (78%)
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craniofacial
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• frontonasal mass is defective or absent in >25% of embryos examined at 12.5-17.5 dpc
|
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• frontonasal mass is defective or absent in >25% of embryos examined at 12.5-17.5 dpc
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| septooptic dysplasia | DOID:0060857 |
OMIM:182230 |
J:142649 | |
