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Symbol
Name
ID 		Fbn1
fibrillin 1
MGI:95489
Phenotype annotations related to skeleton
!Indicates phenotype varies with strain background.
Darker colors indicate more annotations
Human Phenotypes
Brachycephaly
Broad skull
Dolichocephaly
Micrognathia
Retrognathia
Hypoplasia of the maxilla
Malar flattening
Shallow orbits
Short phalanx of finger
Broad phalanges of the hand
Short thumb
Short finger
Arachnodactyly
Hammertoe
Flexion contracture of toe
Brachydactyly
Abnormal femur morphology
Short metatarsal
Broad metatarsal
Metatarsus adductus
Equinus calcaneus
Short foot
Fifth metacarpal with ulnar notch
Short metacarpal
Broad metacarpals
Short palm
Small hand
Protrusio acetabuli
Knee flexion contracture
Genu recurvatum
Elbow flexion contracture
Limited elbow extension
Mitral annular calcification
Limited shoulder movement
Flexion contracture
Camptodactyly
Joint hypermobility
Limitation of joint mobility
Joint stiffness
Delayed skeletal maturation
Abnormal epiphysis morphology
Cone-shaped epiphysis
Short long bone
Broad ribs
Pectus carinatum
Pectus excavatum
Lumbar hyperlordosis
Kyphoscoliosis
Scoliosis
Ovoid vertebral bodies
Reversed usual vertebral column curves
Spinal canal stenosis
Spondylolisthesis
Thin bony cortex
Premature osteoarthritis
Disease(s) Associated with FBN1
acromicric dysplasia
geleophysic dysplasia 2
Marfan syndrome
mitral valve prolapse
stiff skin syndrome
Weill-Marchesani syndrome

Mouse Phenotypes
brachyphalangia
short radius
short ulna
short tibia
short metacarpal bones
abnormal skeleton morphology
decreased length of long bones
increased length of long bones
abnormal rib morphology
long ribs
kyphosis
decreased bone mineral density
decreased bone volume
abnormal trabecular bone morphology
abnormal bone trabecula morphology
decreased bone trabecula number
decreased trabecular bone thickness
decreased bone mass
abnormal bone remodeling
Availability Mouse Genotype
Fbn1tm2Rmz/Fbn1tm2Rmz
Fbn1tm3.2Lysa/Fbn1tm3.2Lysa
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn1tm1Hcd/Fbn1+
Fbn1tm1Lper/Fbn1+ !
Fbn1tm3.2Lysa/Fbn1+
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Prrx1-cre)1Cjt/0  (conditional)
Fbn1tm1.1Itl/Fbn1tm3Rmz
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/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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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory