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Symbol
Name
ID 		Fgfr1
fibroblast growth factor receptor 1
MGI:95522
Phenotype annotations related to skeleton
!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
Short neck
Bowing of the long bones
Clinodactyly of the 5th finger
Postaxial hand polydactyly
Broad distal phalanx of the thumb
Shortening of all middle phalanges of the fingers
Camptodactyly of finger
Short phalanx of finger
Broad thumb
Preaxial hand polydactyly
Symphalangism affecting the phalanges of the hand
Short thumb
Broad proximal phalanx of the hallux
Broad distal phalanx of the hallux
Broad hallux phalanx
Broad hallux
Broad distal hallux
Hallux varus
Preaxial foot polydactyly
Short middle phalanx of toe
Toe syndactyly
2-3 toe syndactyly
3-4 toe cutaneous syndactyly
Broad phalanx
Clinodactyly
Brachydactyly
Syndactyly
Cutaneous syndactyly
Cutaneous finger syndactyly
Finger syndactyly
Abnormal fibula morphology
Broad first metatarsal
Short first metatarsal
Short metatarsal
Broad metatarsal
Calcaneonavicular fusion
Short foot
Humeroradial synostosis
Short metacarpal
Broad metacarpals
Short palm
Ectrodactyly
Split foot
Synostosis of carpal bones
Elbow ankylosis
Limited elbow movement
Limb undergrowth
Rhizomelia
Rhizomelic arm shortening
Cervical C5/C6 vertebrae fusion
Delayed skeletal maturation
Increased susceptibility to fractures
Delayed epiphyseal ossification
Pseudoarthrosis
Hip dysplasia
Abnormal clavicle morphology
Hypoplastic scapulae
Pectus carinatum
Pectus excavatum
Hyperlordosis
Scoliosis
Abnormal form of the vertebral bodies
Platyspondyly
Abnormal bone ossification
Osteopenia
Disease(s) Associated with FGFR1
acrocephalosyndactylia
hypogonadotropic hypogonadism 2 with or without anosmia
Jackson-Weiss syndrome
osteoglophonic dysplasia
Pfeiffer syndrome

Mouse Phenotypes
increased osteoblast proliferation
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 carpal bone morphology
abnormal phalanx morphology
abnormal tarsal bone morphology
short tibia
decreased caudal vertebrae number
abnormal sternocostal joint morphology
abnormal axial skeleton morphology
abnormal thoracic cage morphology
abnormal rib morphology
increased rib number
rib bifurcation
rib fusion
abnormal thoracic vertebrae morphology
decreased thoracic vertebrae number
increased thoracic vertebrae number
thoracic vertebral transformation
abnormal vertebrae morphology
abnormal cervical axis morphology
cervical vertebral transformation
decreased lumbar vertebrae number
lumbar vertebral transformation
sacral vertebral transformation
vertebral transformation
increased osteoblast cell number
abnormal cartilage development
abnormal incudostapedial joint morphology
premature cranial suture closure
premature coronal suture closure
premature metopic suture closure
premature sagittal suture closure
premature maxillary-premaxillary suture closure
Availability Mouse Genotype
Fgfr1tm1Cxd/Fgfr1tm1Cxd
Fgfr1tm2.1Cxd/Fgfr1tm2.1Cxd
Fgfr1tm2Jrt/Fgfr1tm2Jrt
Fgfr1tm4Jrt/Fgfr1tm4Jrt
Fgfr1tm5Jrt/Fgfr1tm5Jrt
Fgfr1tm6.1Jrt/Fgfr1tm6.1Jrt
Fgfr1tm6Jrt/Fgfr1tm6Jrt
Fgfr1tm8.1Sor/Fgfr1tm8.1Sor
Fgfr1tm9.1Sor/Fgfr1tm9.1Sor
Fgfr1Hspy/Fgfr1+ ! !
Fgfr1tm1Jrt/Fgfr1tm2Jrt
Fgfr1tm1Jrt/Fgfr1tm6.1Jrt
Fgfr1tm2.1Cxd/Fgfr1+
Fgfr1tm1Jpa/Fgfr1tm1Jpa
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Fgfr1tm2Jrt/Fgfr1tm2Jrt
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Fgfr1tm3.2Cxd/Fgfr1tm3.2Cxd
Tg(T-cre)1Lwd/0  (conditional)
Fgfr1tm1Jpa/Fgfr1tm1.1Jpa
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (conditional)
Fgfr1tm3.1Cxd/Fgfr1tm3.2Cxd
Tg(T-cre)1Lwd/0  (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)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory