Symbol Name ID |
Kifbp
kinesin family binding protein MGI:1919570 |
* | 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 |
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Availability | Mouse Genotype | |||||||||||||||
Kifbpem1Hmy/Kifbpem1Hmy | * | |||||||||||||||
Kifbpem2Hmy/Kifbpem2Hmy | * | |||||||||||||||
Kifbptm1a(KOMP)Wtsi/Kifbptm1a(KOMP)Wtsi |
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 |
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