About   Help   FAQ
Symbol
Name
ID 		Fgfr1
fibroblast growth factor receptor 1
MGI:95522
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
Frontal bossing
Brachycephaly
Acrobrachycephaly
Brachyturricephaly
Cloverleaf skull
Craniosynostosis
Coronal craniosynostosis
Lambdoidal craniosynostosis
Sagittal craniosynostosis
Turricephaly
Micrognathia
Mandibular prognathia
Hypoplasia of the maxilla
Hypoplasia of the zygomatic bone
Malar flattening
Shallow orbits
Posterior fossa cyst
Delayed cranial suture closure
Large fontanelles
Facial asymmetry
Flat face
Midface retrusion
Broad forehead
High forehead
Prominent forehead
Long philtrum
Short philtrum
Cleft upper lip
Abnormal palate morphology
Bifid uvula
Cleft palate
High palate
Narrow palate
Open mouth
Tooth agenesis
Delayed eruption of teeth
Eruption failure
Multiple unerupted teeth
Dental crowding
Dental malocclusion
Choanal atresia
Choanal stenosis
Anteverted nares
Convex nasal ridge
Depressed nasal bridge
Wide nasal bridge
Short nose
Abnormality of the sense of smell
Anosmia
Hyposmia
Nasal congestion
Downslanted palpebral fissures
Telecanthus
Prominent supraorbital ridges
Underdeveloped supraorbital ridges
Disease(s) Associated with FGFR1
acrocephalosyndactylia
hypogonadotropic hypogonadism 2 with or without anosmia
hypogonadotropic hypogonadism 7 with or without anosmia
Jackson-Weiss syndrome
osteoglophonic dysplasia
Pfeiffer syndrome

Mouse Phenotypes
craniofacial phenotype
abnormal craniofacial morphology
abnormal craniofacial bone morphology
abnormal maxillary-premaxillary suture morphology
abnormal basisphenoid bone morphology
absent round window
decreased round window size
abnormal styloid process morphology
styloid process hypoplasia
small cranium
fusion of atlas and occipital bones
abnormal alisphenoid bone morphology
abnormal pterygoid bone morphology
abnormal temporal bone squamous part morphology
abnormal retrotympanic process morphology
abnormal viscerocranium morphology
abnormal hyoid bone lesser horn morphology
long incisors
abnormal tooth development
short mandible
micrognathia
short nasal bone
abnormal palatine bone morphology
abnormal middle ear ossicle morphology
abnormal incus morphology
abnormal incus body morphology
absent incus lenticular process
abnormal incus long process morphology
abnormal incus short process morphology
incus hypoplasia
abnormal malleus morphology
absent gonial bone
small gonial bone
malleus hypoplasia
abnormal stapes morphology
abnormal stapes posterior crus morphology
absent stapes head
stapes hypoplasia
absent middle ear ossicles
middle ear ossicle hypoplasia
abnormal medial nasal prominence morphology
abnormal palatal mesenchymal cell proliferation
abnormal secondary palate development
failure of palatal shelf elevation
palatal shelves fail to meet at midline
persistence of medial edge epithelium during palatal shelf fusion
decreased palatal shelf size
abnormal second pharyngeal arch morphology
absent second pharyngeal arch
small second pharyngeal arch
second pharyngeal arch hypoplasia
craniofacial asymmetry
facial asymmetry
midface hypoplasia
cleft upper lip
cleft primary palate
abnormal palatal rugae morphology
cleft secondary palate
cleft palate
complete cleft palate
abnormal tongue position
abnormal snout morphology
short snout
midline facial cleft
abnormal outer ear morphology
abnormal ear position
lowered ear position
abnormal ear shape
excessive cerumen
small ears
Availability Mouse Genotype
Fgfr1tm1.1Upir/Fgfr1tm1.1Upir
Fgfr1tm2.1Cxd/Fgfr1tm2.1Cxd
Fgfr1tm2Jrt/Fgfr1tm2Jrt
Fgfr1tm4Jrt/Fgfr1tm4Jrt
Fgfr1tm5Jrt/Fgfr1tm5Jrt
Fgfr1tm6Jrt/Fgfr1tm6Jrt
Fgfr1tm9.1Sor/Fgfr1tm9.1Sor
Fgfr1tm10.1Sor/Fgfr1tm10.1Sor
Fgfr1Eask/Fgfr1+
Fgfr1Hspy/Fgfr1+ ! ! !
Fgfr1tm1Jrt/Fgfr1tm2Jrt
Fgfr1tm2.1Cxd/Fgfr1+
Fgfr1tm1Jpa/Fgfr1tm1Jpa
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)		 *
Fgfr1tm2Jrt/Fgfr1tm2Jrt
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)		 *
Fgfr1tm5.1Sor/Fgfr1tm5.1Sor
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Fgfr1tm1Jpa/Fgfr1tm1.1Jpa
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)		 *
Fgfr1tm5.1Sor/Fgfr1tm9.1Sor
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Fgfr1tm5.1Sor/Fgfr1tm10.1Sor
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (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
04/16/2024
MGI 6.23 		The Jackson Laboratory