Phenotypes Associated with This Genotype

Genotype
MGI:6154375

• Allelic Composition: Kifbp^em1Hmy/Kifbp^em1Hmy
• Genetic Background: Not Specified

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

nervous system

nervous system phenotype ( J:253679 )

N • innervation of colon by HuC/D+ and nNOS+ neurons and their density in distal colon

N • width of corpus callosum in newborn mice

N • 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

N • retrotrapezoid nucleus/parafacial respiratory group and pre-Boetzinger complex primary respiratory phase oscillators present in newborn (P0) mice and of normal morphology

abnormal enteric neural crest cell morphology ( J:253679 )

• delayed colonization of intestines by enteric neural crest-derived cells (ENCCs), as determined by Sox10 staining in E12.5 embryos

decreased brain weight ( J:253679 )

• in newborn mice

decreased anterior commissure size ( J:253679 )

• in newborn (P0) mice

• significantly thinner anterior and posterior sides

• very few fibers crossing midline, instead diverting dorsally

abnormal cerebral cortex morphology ( J:253679 )

• significantly reduced cortical surface area in newborn (P0) mice

abnormal olfactory bulb layer morphology ( J:253679 )

• in newborn (P0) mice

• 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

olfactory bulb hypoplasia ( J:253679 )

• 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

embryo phenotype ( J:253679 )

N • morphology of Tubb3 (Tuj1)-positive neurites of intrinsic neurons of small intestine of E12.5 embryos

abnormal embryo development ( J:253679 )

• 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

abnormal enteric neural crest cell morphology ( J:253679 )

• delayed colonization of intestines by enteric neural crest-derived cells (ENCCs), as determined by Sox10 staining in E12.5 embryos

respiratory system

respiratory distress ( J:253679 )

• sporadic deep gasping activities and absence of detectable normal breathing movements in newborn mice

homeostasis/metabolism

cyanosis ( J:253679 )

• in most newborn mice

growth/size/body

growth/size/body region phenotype ( J:253679 )

N • no obvious histopathological phenotype of heart, thymus, lungs, trachea, diaphragm, pancreas, spleen, intestines or spinal cord in newborn mice

decreased body weight ( J:253679 )

• mice born with significantly lower body weight

mortality/aging

neonatal lethality, complete penetrance ( J:253679 )

• pups die within 3-4 hours after birth

skeleton

skeleton phenotype ( J:253679 )

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