Symbol
Name
ID

Fgfr3
fibroblast growth factor receptor 3
MGI:95524

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

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

Short neck

Bowing of the long bones

Radial bowing

Ulnar bowing

Bowing of the legs

Femoral bowing

Fibular bowing

Genu valgum

Genu varum

Tibial bowing

Shortening of all distal phalanges of the fingers

Cone-shaped epiphyses of the phalanges of the hand

Short middle phalanx of finger

Shortening of all middle phalanges of the fingers

Thimble-shaped middle phalanges of hand

Camptodactyly of finger

Broad thumb

Duplication of thumb phalanx

Abnormal thumb morphology

Triphalangeal thumb

Radial deviation of finger

Arachnodactyly

Trident hand

Broad hallux

Hallux valgus

Cone-shaped epiphyses of the toes

Short middle phalanx of toe

Short toe

Camptodactyly of toe

Clinodactyly

Brachydactyly

Abnormal femur morphology

Wide femoral metaphysis

Short femoral neck

Short femur

Metatarsus adductus

Tarsal synostosis

Short foot

Abnormal metaphysis morphology

Metaphyseal chondrodysplasia

Metaphyseal irregularity

Metaphyseal widening

Flared metaphysis

Dislocated radial head

Abnormal metacarpal morphology

Short palm

Split hand

Abnormality of lower limb joint

Genu recurvatum

Capitate-hamate fusion

Carpal bone malsegmentation

Carpal synostosis

Joint contracture of the hand

Abnormality of the elbow

Limited elbow extension

Aplasia/hypoplasia of the extremities

Mesomelia

Micromelia

Rhizomelia

Champagne cork sign

Camptodactyly

Joint hypermobility

Generalized joint hypermobility

Limitation of joint mobility

Joint stiffness

Limited hip extension

Cone-shaped epiphysis

Short long bone

Abnormal pelvic girdle bone morphology

Narrow greater sciatic notch

Short greater sciatic notch

Abnormal ilium morphology

Abnormal sacroiliac joint morphology

Hypoplastic ilia

Hip dysplasia

Hypoplastic pelvis

Abnormal clavicle morphology

Lateral clavicle hook

Wide-cupped costochondral junctions

Short ribs

Supernumerary ribs

Thin ribs

Small abnormally formed scapulae

Pectus carinatum

Pectus excavatum

Short thorax

Thoracic hypoplasia

Narrow chest

Hyperlordosis

Lumbar hyperlordosis

Kyphosis

Scoliosis

Lumbar kyphosis in infancy

Abnormal sacrum morphology

Abnormal form of the vertebral bodies

Increased vertebral height

Platyspondyly

Severe platyspondyly

Narrow vertebral interpedicular distance

Widened interpedicular distance

C1-C2 vertebral abnormality

Spinal canal stenosis

Spinal stenosis with reduced interpedicular distance

Osteopenia

Osteoarthritis

Exostoses

Osteochondroma

Skeletal dysplasia

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

skeleton phenotype

enhanced osteoblast differentiation

abnormal osteoclast differentiation

abnormal chondrocyte proliferation

decreased chondrocyte proliferation

increased chondrocyte proliferation

abnormal osteoblast physiology

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

increased osteoclast cell number

abnormal osteoclast physiology

abnormal humerus morphology

bowed humerus

long humerus

short humerus

bowed radius

long radius

abnormal ulna morphology

bowed ulna

short ulna

long ulna

abnormal femur morphology

decreased femur compact bone thickness

large femur head

bowed femur

short femur

increased diameter of femur

long femur

abnormal fibula morphology

bowed fibula

abnormal tibia morphology

bowed tibia

long tibia

short tibia

abnormal limb bone morphology

small caudal vertebrae

abnormal skeleton morphology

abnormal appendicular skeleton morphology

abnormal long bone morphology

abnormal long bone diaphysis morphology

abnormal long bone epiphyseal plate morphology

abnormal long bone epiphyseal ossification zone morphology

abnormal long bone epiphyseal plate proliferative zone

abnormal long bone hypertrophic chondrocyte zone

decreased width of hypertrophic chondrocyte zone

increased width of hypertrophic chondrocyte zone

decreased long bone epiphyseal plate size

disorganized long bone epiphyseal plate

increased long bone epiphyseal plate size

abnormal long bone epiphysis morphology

abnormal long bone metaphysis morphology

decreased length of long bones

increased diameter of long bones

abnormal sternum ossification

failure of sternum ossification

wide sternum

abnormal axial skeleton morphology

abnormal thoracic cage morphology

abnormal costal cartilage morphology

abnormal rib morphology

short ribs

abnormal thoracic cage shape

abnormal thoracic vertebrae morphology

small thoracic cage

abnormal intervertebral disk morphology

abnormal annulus fibrosus morphology

abnormal spine curvature

kyphosis

kyphoscoliosis

scoliosis

abnormal vertebrae morphology

abnormal cervical vertebrae morphology

short lumbar vertebrae

abnormal vertebrae development

abnormal vertebral epiphyseal plate morphology

vertebral compression

absent vertebral spinous process

abnormal vertebral body morphology

elongated vertebral body

enlarged vertebral body

short vertebral body

decreased bone mineral density of vertebrae

small vertebrae

short vertebral column

axial skeleton hypoplasia

abnormal bone structure

decreased bone mineral density of femur

decreased bone mineral density

increased compact bone volume

decreased bone volume

abnormal compact bone morphology

abnormal compact bone lamellar structure

decreased compact bone thickness

increased compact bone thickness

abnormal trabecular bone morphology

decreased bone trabecula number

increased bone trabecular spacing

decreased trabecular bone thickness

abnormal synchondrosis

abnormal chondrocyte morphology

abnormal chondrocyte differentiation

decreased chondrocyte number

abnormal hyaline cartilage morphology

abnormal perichondrium morphology

abnormal skeleton development

abnormal epiphyseal plate morphology

synostosis

abnormal bone ossification

abnormal bone mineralization

abnormal endochondral bone ossification

delayed endochondral bone ossification

premature endochondral bone ossification

abnormal intramembranous bone ossification

delayed bone ossification

increased bone ossification

decreased bone stiffness

decreased vertebra stiffness

decreased bone strength

decreased femur maximal load

decreased femur yield load

decreased vertebra maximal load

decreased energy dissipated prior to femur fracture

fragile skeleton

abnormal chondrocyte physiology

Availability

Mouse Genotype

Fgfr3^m1J/Fgfr3^m1J

Fgfr3^tm1.1Aomw/Fgfr3^tm1.1Aomw

Fgfr3^tm1Cxd/Fgfr3^tm1Cxd

Fgfr3^tm1Dor/Fgfr3^tm1Dor

Fgfr3^tm1Led/Fgfr3^tm1Led

Fgfr3^tm1Schl/Fgfr3^tm1Schl

Fgfr3^tm1Wei/Fgfr3^tm1Wei

Fgfr3^tm2Schl/Fgfr3^tm2Schl

Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd

Fgfr3^tm3Cxd/Fgfr3^tm3Cxd

Fgfr3^tm5Cxd/Fgfr3^tm5Cxd

Fgfr3^tm6.2Cxd/Fgfr3^tm6.2Cxd

Fgfr3^tm6Cxd/Fgfr3^tm6Cxd

Fgfr3^tm1.1Aomw/Fgfr3⁺

Fgfr3^tm1.1Iwa/Fgfr3⁺

Fgfr3^tm1Llm/Fgfr3⁺

Fgfr3^tm2Wei/Fgfr3⁺

Fgfr3^tm3.1Cxd/Fgfr3⁺

Fgfr3^tm3.1Llm/Fgfr3⁺

Fgfr3^tm4.1Cxd/Fgfr3⁺

Fgfr3^tm5.1Cxd/Fgfr3⁺

Tg(Col2a1-Fgfr3/GH)BDor/0

Fgfr3^tm2Llm/Fgfr3⁺
Tg(CMV-cre)1Ipc/? (conditional)

Fgfr3^tm2Llm/Fgfr3⁺
Tg(Col2a1-cre)1Bhr/? (conditional)

Fgfr3^tm2Llm/Fgfr3⁺
Tg(Col1a1-cre)1Kry/0 (conditional)

Fgfr3^tm4Cxd/Fgfr3⁺
Tg(Col2a1-cre)1Bhr/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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