Analysis Tools
mortality/aging
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• no viable animals are recovered postnatally
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endocrine/exocrine glands
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• testicular dysgenesis
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• testis development is severely affected by E12.5
• the interstitial compartment of the developing testes at E13.5 and E15.5 exhibits a high cellular density typical of irregular and dense connective tissues
• however, female germ cells are normal in numbers and ovarian differentiation occurs normally
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• decrease in testis cord numbers
• alteration of the size and shape of testis cords which appear irregular and anastomotic
• however, differentiation of Sertoli cells appears normal
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• marker analysis indicates that differentiation of fetal Leydig cells and steroidogenesis are not initiated at E12.5 and E13.5
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small testis
(
J:226657
)
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• drastic reduction in testis size that is apparent from E12.5 to E15.5
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reproductive system
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• testicular dysgenesis
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• testis development is severely affected by E12.5
• the interstitial compartment of the developing testes at E13.5 and E15.5 exhibits a high cellular density typical of irregular and dense connective tissues
• however, female germ cells are normal in numbers and ovarian differentiation occurs normally
|
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• decrease in testis cord numbers
• alteration of the size and shape of testis cords which appear irregular and anastomotic
• however, differentiation of Sertoli cells appears normal
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|
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• marker analysis indicates that differentiation of fetal Leydig cells and steroidogenesis are not initiated at E12.5 and E13.5
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small testis
(
J:226657
)
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• drastic reduction in testis size that is apparent from E12.5 to E15.5
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craniofacial
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• skeletal elements of cranium are reduced in size in association with diminished zone of proliferating chondrocytes
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• reduced in size and misshapen at E17.5
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• observed at E17.5
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• reduced in size and misshapen at E17.5
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• observed at E17.5
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• observed at E17.5
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• incisor and alveolar molar tooth primordia are missing at E17.5
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• tooth development is disrupted
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• dentary bones lack condyle, angular and coronoid processes at E17.5
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• at E17.5 only rudimentary premaxilla, maxilla and dentary bones are observed
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• frontonasal region is reduced in size by E10.5 so that only a single slit is present
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• hypoplastic at E9.5-10.5 resulting in narrow protruding midface by E14.5 with more pronounced mandibular hypoplasia
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• hypoplastic at E9.5-10.5 resulting in narrow protruding midface by E14.5 with more pronounced maxillary hypoplasia
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• at E14.5 palatal shelves are not easily identifiable
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• embryos display defects in the vertical extension of palatal shelves
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• embryos display defects in the medial growth of palatal shelves toward the midline
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• oral cavity is considerably narrower than in controls at E14.5
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• observed at E14.5
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• nasal cartilage is absent or hypoplastic at E15.5
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• E14.5 embryos possess a single discontinuous nasal cavity
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• missing in E14.5 embryos
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embryo
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• embryos as smaller than controls at E10.5
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• neural crest lineages are altered compared to wild type
• neural crest derived frontonasal, maxillary, mandibular and prospective palatal mesenchyme displays considerably more apoptosis than controls
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skeleton
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• skeletal elements of cranium are reduced in size in association with diminished zone of proliferating chondrocytes
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• reduced in size and misshapen at E17.5
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• observed at E17.5
|
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• reduced in size and misshapen at E17.5
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• observed at E17.5
|
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• observed at E17.5
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• incisor and alveolar molar tooth primordia are missing at E17.5
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• tooth development is disrupted
|
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• dentary bones lack condyle, angular and coronoid processes at E17.5
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• at E17.5 only rudimentary premaxilla, maxilla and dentary bones are observed
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• nasal cartilage is absent or hypoplastic at E15.5
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• staining for cartilage in the vertebral column is absent at E15.5
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• diminished chondrogenesis of calvarial, nasal and otic mesenchyme is observed with cranial cartilage elements hypoplastic or missing at E15.5
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• ossified bone is completely absent in skull and jaw at E15.5
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limbs/digits/tail
oligodactyly
(
J:190013
)
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• observed at E14.5
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growth/size/body
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• incisor and alveolar molar tooth primordia are missing at E17.5
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• tooth development is disrupted
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• at E14.5 palatal shelves are not easily identifiable
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• embryos display defects in the vertical extension of palatal shelves
|
|
• embryos display defects in the medial growth of palatal shelves toward the midline
|
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• oral cavity is considerably narrower than in controls at E14.5
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• observed at E14.5
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• nasal cartilage is absent or hypoplastic at E15.5
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• E14.5 embryos possess a single discontinuous nasal cavity
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• missing in E14.5 embryos
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• embryos as smaller than controls at E10.5
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vision/eye
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• failure to form the cornea
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• in some embryos eye remains embedded in brain tissue; this lack of surface ectoderm contact results in failure to form tissues such as the cornea
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nervous system
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• neural crest lineages are altered compared to wild type
• neural crest derived frontonasal, maxillary, mandibular and prospective palatal mesenchyme displays considerably more apoptosis than controls
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• smaller telencephalic vesicles are observed by E9.5
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• diencephalic hypoplasia is observed by E9.5 with agenesis of prosomere 2
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digestive/alimentary system
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• at E14.5 palatal shelves are not easily identifiable
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• embryos display defects in the vertical extension of palatal shelves
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• embryos display defects in the medial growth of palatal shelves toward the midline
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• observed at E14.5
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respiratory system
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• nasal cartilage is absent or hypoplastic at E15.5
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• E14.5 embryos possess a single discontinuous nasal cavity
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• missing in E14.5 embryos
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homeostasis/metabolism
cardiovascular system
hemorrhage
(
J:190013
)
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• large areas of pooling blood are observed in anterior region of embryo
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| chondrodysplasia-pseudohermaphroditism syndrome | DOID:0060644 |
OMIM:600092 |
J:226657 | |
