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Symbol
Name
ID
Fbn2
fibrillin 2
MGI:95490
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Congenital finger flexion contractures
Camptodactyly of finger
Camptodactyly of 2nd-5th fingers
Camptodactyly of toe
Flexion contracture of finger
Flexion contracture of toe
Joint contractures involving the joints of the feet
Contractures involving the joints of the feet
Plantar flexion contractures
Knee flexion contracture
Elbow flexion contracture
Joint contracture of the hand
Wrist flexion contracture
Absent phalangeal crease
Absent distal interphalangeal creases
Short phalanx of finger
Adducted thumb
Overlapping fingers
Ulnar deviation of finger
Arachnodactyly
Deviation of the 2nd toe
Fibular deviation of toes
Tibial deviation of toes
Hammertoe
Overlapping toe
Cutaneous syndactyly of toes
Clinodactyly
Cutaneous finger syndactyly
Cutaneous syndactyly between fingers 2 and 5
Aplasia/Hypoplasia of the radius
Metatarsus adductus
Calcaneovalgus deformity
Rocker bottom foot
Tarsal synostosis
Hip dislocation
Congenital hip dislocation
Patellar dislocation
Patellar subluxation
Equinovarus deformity
Talipes equinovarus
Bilateral talipes equinovarus
Calf muscle hypoplasia
Hand clenching
Decreased palmar creases
Single transverse palmar crease
Bilateral single transverse palmar creases
Ulnar deviation of the hand or of fingers of the hand
Limited wrist extension
Ulnar deviation of the wrist
Disease(s) Associated with FBN2
distal arthrogryposis

Mouse Phenotypes
abnormal interdigital cell death
abnormal autopod morphology
abnormal carpal bone morphology
fused phalanges
syndactyly
Availability Mouse Genotype
Fbn2fp-2J/Fbn2fp-2J
Fbn2fp-3J/Fbn2fp-3J
Fbn2fp-4J/Fbn2fp-4J
Fbn2fp/Fbn2fp
Fbn2mz/Fbn2mz
Fbn2timon/Fbn2timon
Fbn2tm1Rmz/Fbn2tm1Rmz

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
06/04/2019
MGI 6.14
The Jackson Laboratory