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Symbol
Name
ID

Tcof1
treacle ribosome biogenesis factor 1
MGI:892003

Phenotype annotations related to craniofacial

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

Human Phenotypes

Preauricular hair displacement

Micrognathia

Malar flattening

Preauricular skin tag

Cleft soft palate

Cleft palate

Abnormal parotid gland morphology

Narrow mouth

Wide mouth

Choanal atresia

Sparse lower eyelashes

Downslanted palpebral fissures

Lower eyelid coloboma

Upper eyelid coloboma

Lacrimal duct stenosis

Disease(s) Associated with TCOF1

Treacher Collins syndrome 1

Mouse Phenotypes

craniofacial phenotype

abnormal craniofacial morphology

abnormal craniofacial bone morphology

abnormal cranium morphology

abnormal neurocranium morphology

abnormal frontal bone morphology

absent frontal bone

frontal bone hypoplasia

absent interparietal bone

absent parietal bone

abnormal temporal bone morphology

temporal bone hypoplasia

abnormal zygomatic arch morphology

zygomatic arch hypoplasia

small orbits

abnormal viscerocranium morphology

small mandible

mandible hypoplasia

short mandible

abnormal maxilla morphology

abnormal premaxilla morphology

premaxilla hypoplasia

short premaxilla

maxilla hypoplasia

short maxilla

retrognathia

abnormal nasal bone morphology

nasal bone hypoplasia

abnormal palatine bone morphology

palatine bone hypoplasia

absent turbinates

facial bone hypoplasia

acrania

domed cranium

abnormal middle ear ossicle morphology

middle ear ossicle hypoplasia

abnormal craniofacial development

frontonasal prominence hypoplasia

abnormal lateral nasal prominence morphology

abnormal maxillary prominence morphology

abnormal medial nasal prominence morphology

abnormal nasal capsule morphology

absent nasal pit

failure of palatal shelf elevation

abnormal palatal shelf fusion at midline

first pharyngeal arch hypoplasia

abnormal upper lip morphology

cleft palate

abnormal nasal cavity morphology

abnormal nasal septum morphology

absent nasal septum

shortened head

abnormal outer ear morphology

lowered ear position

cup-shaped ears

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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