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Symbol
Name
ID
Kifbp
kinesin family binding protein
MGI:1919570
Phenotype annotations related to nervous system
*Aspects of the system are reported to show a normal phenotype.
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Aganglionic megacolon
Hypoplasia of the brainstem
Ventriculomegaly
Pachygyria
Polymicrogyria
Hypoplasia of the corpus callosum
Widened subarachnoid space
Intellectual disability
Global developmental delay
Specific learning disability
Seizure
Disease(s) Associated with KIFBP
Goldberg-Shprintzen syndrome

Mouse Phenotypes
nervous system phenotype
absent posterior communicating artery
abnormal enteric neural crest cell morphology
abnormal adenohypophysis morphology
increased trigeminal neuroma incidence
small superior cervical ganglion
decreased brain weight
decreased anterior commissure size
abnormal cerebral cortex morphology
abnormal olfactory bulb layer morphology
olfactory bulb hypoplasia
small trigeminal ganglion
absent hypoglossal nerve
thin hypoglossal nerve
thin vagus nerve
Availability Mouse Genotype
Kifbpem1Hmy/Kifbpem1Hmy *
Kifbpem2Hmy/Kifbpem2Hmy *
Kifbptm1a(KOMP)Wtsi/Kifbptm1a(KOMP)Wtsi

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
05/21/2024
MGI 6.23
The Jackson Laboratory