About   Help   FAQ
Symbol
Name
ID 		Fgfr3
fibroblast growth factor receptor 3
MGI:95524
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
Low anterior hairline
Frontal bossing
Prominent occiput
Biparietal narrowing
Brachycephaly
Brachyturricephaly
Cloverleaf skull
Craniosynostosis
Coronal craniosynostosis
Bicoronal synostosis
Unicoronal synostosis
Left unicoronal synostosis
Right unicoronal synostosis
Lambdoidal craniosynostosis
Pansynostosis
Sagittal craniosynostosis
Dolichocephaly
Scaphocephaly
Plagiocephaly
Trigonocephaly
Turricephaly
Oxycephaly
Aplasia/Hypoplasia of the mandible
Micrognathia
Retrognathia
Hypoplasia of the maxilla
Malar flattening
Small foramen magnum
Shallow orbits
Temporal bossing
Microcephaly
Macrocephaly
Metopic synostosis
Wormian bones
Wide anterior fontanel
Encephalocele
Flat face
Small face
Midface retrusion
High forehead
Prominent forehead
Abnormal palate morphology
Cleft soft palate
High palate
High, narrow palate
Narrow palate
Conical tooth
Microdontia
Supernumerary tooth
Hypodontia
Carious teeth
Dental malocclusion
Choanal atresia
Choanal stenosis
Anteverted nares
Convex nasal ridge
Depressed nasal bridge
Conjunctivitis
Downslanted palpebral fissures
Telecanthus
Lacrimal duct aplasia
Lacrimal duct atresia
Absent lacrimal punctum
Disease(s) Associated with FGFR3
achondroplasia
camptodactyly-tall stature-scoliosis-hearing loss syndrome
craniosynostosis
Crouzon syndrome-acanthosis nigricans syndrome
hypochondroplasia
lacrimoauriculodentodigital syndrome 2
Muenke Syndrome
SADDAN
thanatophoric dysplasia

Mouse Phenotypes
craniofacial phenotype
abnormal craniofacial morphology
abnormal craniofacial bone morphology
abnormal cranial suture morphology
abnormal coronal suture morphology
abnormal lambdoid suture morphology
abnormal sagittal suture morphology
abnormal cranium morphology
abnormal foramen magnum morphology
foramen magnum stenosis
short basicranium
premature sphenooccipital synchondrosis closure
premature cranial synchondrosis closure
decreased cranium height
decreased cranium length
increased cranium width
abnormal neurocranium morphology
short frontal bone
thin frontal bone
enlarged interparietal bone
small interparietal bone
abnormal occipital bone morphology
small occipital bone
abnormal parietal bone morphology
thin parietal bone
small presphenoid bone
abnormal temporal bone morphology
increased hyoid bone size
long incisors
misaligned incisors
malocclusion
abnormal maxilla morphology
abnormal maxillary zygomatic process morphology
abnormal premaxilla morphology
maxillary retrognathia
prognathia
short nasal bone
abnormal palatine bone horizontal plate morphology
abnormal zygomatic bone morphology
domed cranium
abnormal middle ear ossicle morphology
abnormal incus morphology
abnormal malleus morphology
abnormal stapes morphology
midface hypoplasia
abnormal snout morphology
small snout
short snout
round head
Availability Mouse Genotype
Fgfr3tm1.1Aomw/Fgfr3tm1.1Aomw * !
Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Fgfr3tm1.1Aomw/Fgfr3+ *! !
Fgfr3tm1.1Iwa/Fgfr3+
Fgfr3tm1Llm/Fgfr3+
Fgfr3tm2Wei/Fgfr3+
Fgfr3tm3.1Cxd/Fgfr3+
Fgfr3tm3.1Llm/Fgfr3+
Fgfr3tm4.1Cxd/Fgfr3+
Fgfr3tm5.1Cxd/Fgfr3+
Tg(Col2a1-Fgfr3/GH)BDor/0
Fgfr3tm2Llm/Fgfr3+
Tg(CMV-cre)1Ipc/?  (conditional)
Fgfr3tm2Llm/Fgfr3+
Tg(Col2a1-cre)1Bhr/?  (conditional)
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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
04/30/2024
MGI 6.23 		The Jackson Laboratory