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Phenotypes Associated with This Genotype
Genotype
MGI:6154375
Allelic
Composition
Kifbpem1Hmy/Kifbpem1Hmy
Genetic
Background
Not Specified
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Kifbpem1Hmy mutation (0 available); any Kifbp mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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
• 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
• 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
• in most newborn mice

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/16/2021
MGI 6.16
The Jackson Laboratory