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Symbol
Name
ID
Fgfr2
fibroblast growth factor receptor 2
MGI:95523
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Joint contracture of the hand
Partial duplication of the distal phalanx of the 2nd finger
Partial duplication of the distal phalanx of the 3rd finger
Radial deviation of the 3rd finger
Clinodactyly of the 5th finger
Postaxial hand polydactyly
Broad distal phalanx of the thumb
Absent proximal phalanx of thumb
Shortening of all middle phalanges of the fingers
Broad thumb
Partial duplication of thumb phalanx
Preaxial hand polydactyly
Symphalangism affecting the phalanges of the hand
Triphalangeal thumb
Bilateral triphalangeal thumbs
Arachnodactyly
Broad hallux phalanx
Broad hallux
Broad distal hallux
Hallux valgus
Hallux varus
Preaxial foot polydactyly
Short middle phalanx of toe
Toe syndactyly
2-3 toe syndactyly
Preaxial polydactyly
Brachydactyly
Syndactyly
Cutaneous finger syndactyly
Finger syndactyly
2-3 finger syndactyly
Absent first metatarsal
Short metatarsal
Broad metatarsal
Femoral bowing
Abnormality of fibula morphology
Rocker bottom foot
Tarsal synostosis
Calcaneonavicular fusion
Hypoplasia of the radius
Hypoplasia of the ulna
Ulnar bowing
Absent radius
Humeroradial synostosis
Radioulnar synostosis
Proximal radio-ulnar synostosis
Split foot
Palmoplantar cutis laxa
Small thenar eminence
Carpal synostosis
Synostosis of carpal bones
Bilateral single transverse palmar creases
Elbow ankylosis
Limited elbow extension
Disease(s) Associated with FGFR2
acrocephalosyndactylia
Antley-Bixler syndrome
Beare-Stevenson cutis gyrata syndrome
Jackson-Weiss syndrome
LADD syndrome
Pfeiffer syndrome
pre-eclampsia
Saethre-Chotzen syndrome

Mouse Phenotypes
abnormal apical ectodermal ridge morphology
absent apical ectodermal ridge
absent limb buds
short humerus
short radius
absent forelimb
short femur
short tibia
absent hindlimb
abnormal limb development
absent limbs
caudal vertebral fusion
curly tail
Availability Mouse Genotype
Fgfr2hob/Fgfr2hob
Fgfr2m1Sgg/Fgfr2m1Sgg
Fgfr2tm1.1Dor/Fgfr2tm1.1Dor
Fgfr2tm1.1Dsn/Fgfr2tm1.1Dsn
Fgfr2tm1Cxd/Fgfr2tm1Cxd
Fgfr2tm2.1Lni/Fgfr2tm2.1Lni
Fgfr2tm3Dsn/Fgfr2tm3Dsn
Fgfr2tm3Lni/Fgfr2tm3Lni
Fgfr2tm1.1Dor/Fgfr2hob
Fgfr2tm1Dor/Fgfr2tm1.1Dor
Twist2tm1(cre)Dor/Twist2+  (conditional)
Fgfr2tm2Ewj/Fgfr2+
Tg(EIIa-cre)C5379Lmgd/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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last database update
11/05/2019
MGI 6.14
The Jackson Laboratory