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Symbol
Name
ID
Fbn1
fibrillin 1
MGI:95489
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Short phalanx of finger
Broad phalanges of the hand
Short thumb
Arachnodactyly
Hammertoe
Brachydactyly
Broad metatarsal
Abnormality of femur morphology
Short foot
Short metacarpal
Broad metacarpals
Fifth metacarpal with ulnar notch
Short palm
Small hand
Medial rotation of the medial malleolus
Pes cavus
Pes planus
Protrusio acetabuli
Genu recurvatum
Broad palm
Disease(s) Associated with FBN1
acromicric dysplasia
geleophysic dysplasia 2
Marfan syndrome
Weill-Marchesani syndrome

Mouse Phenotypes
brachyphalangia
short radius
short ulna
short tibia
short metacarpal bones
Availability Mouse Genotype
Fbn1tm3.2Lysa/Fbn1tm3.2Lysa
Fbn1tm3.2Lysa/Fbn1+

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
11/10/2020
MGI 6.16
The Jackson Laboratory