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Symbol
Name
ID

Fgfr3
fibroblast growth factor receptor 3
MGI:95524

Phenotype annotations related to limbs/digits/tail

Darker colors indicate more annotations

Human Phenotypes

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

Palmoplantar cutis laxa

Pes planus

Talipes equinovarus

Abnormality of lower limb joint

Genu recurvatum

Capitate-hamate fusion

Carpal bone malsegmentation

Carpal synostosis

Single transverse palmar crease

Joint contracture of the hand

Abnormality of the elbow

Limited elbow extension

Aplasia/hypoplasia of the extremities

Mesomelia

Micromelia

Rhizomelia

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

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

long limbs

short limbs

abnormal tail morphology

small caudal vertebrae

long tail

short tail

abnormal tail position or orientation

kinked tail

wavy tail

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^tm1Wei/Fgfr3^tm1Wei

Fgfr3^tm2Schl/Fgfr3^tm2Schl

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

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

Fgfr3^tm6Cxd/Fgfr3^tm6Cxd

Fgfr3^tm1.1Aomw/Fgfr3⁺

Fgfr3^tm1.1Iwa/Fgfr3⁺

Fgfr3^tm1Cxd/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

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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