Symbol
Name
ID

Tcof1
treacle ribosome biogenesis factor 1
MGI:892003

Phenotype annotations related to nervous system

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes	Intellectual disability
Disease(s) Associated with TCOF1	Intellectual disability
Treacher Collins syndrome 1

Mouse Phenotypes

nervous system phenotype

increased neural tube apoptosis

increased embryonic neuroepithelium apoptosis

abnormal neural plate morphology

decreased neural crest cell number

delayed neural tube closure

open neural tube

abnormal Rathke's pouch development

abnormal forebrain development

abnormal midbrain development

abnormal forebrain morphology

exencephaly

abnormal cranial ganglia morphology

small trigeminal ganglion

absent glossopharyngeal nerve

abnormal trigeminal nerve morphology

abnormal dorsal root ganglion morphology

disorganized dorsal root ganglion

decreased embryonic neuroepithelial cell proliferation

Availability

Mouse Genotype

Tcof1^tm1Mjd/Tcof1⁺

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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