nervous system
N |
• innervation of colon by HuC/D+ and nNOS+ neurons and their density in distal colon
• width of corpus callosum in newborn mice
• all major brainstem motor nuclei present in newborn (P0) mice including facial, trigeminal and hypoglossal, and ambiguus nuclei and dorsal motor nucleus of vagus nerve
• retrotrapezoid nucleus/parafacial respiratory group and pre-Boetzinger complex primary respiratory phase oscillators present in newborn (P0) mice and of normal morphology
|
• delayed colonization of intestines by enteric neural crest-derived cells (ENCCs), as determined by Sox10 staining in E12.5 embryos
|
• in newborn mice
|
• in newborn (P0) mice
• significantly thinner anterior and posterior sides
• very few fibers crossing midline, instead diverting dorsally
|
• significantly reduced cortical surface area in newborn (P0) mice
|
• Gaba- and Th-positive neurons sparse and only close to periphery
• in newborn (P0) mice
• absence of lamination
• morphology of Tubb3 (Tuj1)-positive axons projecting from olfactory epithelium to olfactory lobes
|
• in newborn (P0) mice
• ~50% reduction in size
• absence of lamination
• Gaba- and Th-positive neurons sparse and only close to periphery
• morphology of Tubb3 (Tuj1)-positive axons projecting from olfactory epithelium to olfactory lobes
|
embryo
N |
• morphology of Tubb3 (Tuj1)-positive neurites of intrinsic neurons of small intestine of E12.5 embryos
|
• delayed colonization of intestines by enteric neural crest-derived cells (ENCCs), as determined by Sox10 staining in E12.5 embryos
• significantly smaller area occupied by Th-positive fibers in first 2 mm of duodenum of E15.5 embryos
• significantly smaller area occupied by branches of vagus nerve in stomach of E12.5 embryos
• vagus nerve branches in proximal stomach frequently missing in stomach of E12.5 embryos
• width of vagus nerve at gastroesophageal junction reduced in most E12.5 embryos
• reduced number of Tubb3 (Tuj1)-positive vagus nerve fibers in lungs of E12.5 embryos
• colonization of gut by vagal neural crest-derived cells, as determined by Sox10 staining in E10.5 embryos
• phrenic innervation of diaphragm of E16.5 embryos
|
• delayed colonization of intestines by enteric neural crest-derived cells (ENCCs), as determined by Sox10 staining in E12.5 embryos
|
respiratory system
• sporadic deep gasping activities and absence of detectable normal breathing movements in newborn mice
|
homeostasis/metabolism
growth/size/body
N |
• no obvious histopathological phenotype of heart, thymus, lungs, trachea, diaphragm, pancreas, spleen, intestines or spinal cord in newborn mice
|
• mice born with significantly lower body weight
|
mortality/aging
• pups die within 3-4 hours after birth
|
skeleton
N |
• no obvious craniofacial defects in newborn mice
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
Goldberg-Shprintzen syndrome | DOID:0060481 |
OMIM:609460 |
J:253679 |