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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
Flexion contracture
Malar flattening
Shallow orbits
Micrognathia
Retrognathia
Hypoplasia of the maxilla
Brachycephaly
Broad skull
Dolichocephaly
Broad phalanges of the hand
Short thumb
Arachnodactyly
Hammertoe
Brachydactyly
Broad metacarpals
Protrusio acetabuli
Genu recurvatum
Mitral annular calcification
Broad ribs
Pectus carinatum
Pectus excavatum
Lumbar hyperlordosis
Kyphoscoliosis
Scoliosis
Spinal canal stenosis
Spondylolisthesis
Thin bony cortex
Joint hypermobility
Limitation of joint mobility
Joint stiffness
Premature osteoarthritis
Disease(s) Associated with FBN1
Marfan syndrome
Weill-Marchesani syndrome

Mouse Phenotypes
enlarged cranium
long mandible
brachyphalangia
short radius
short ulna
short tibia
short metacarpal bones
abnormal tendon morphology
abnormal tendon sheath morphology
abnormal tracheal cartilage morphology
abnormal skeleton morphology
decreased length of long bones
increased length of long bones
abnormal pelvic girdle bone morphology
abnormal costal cartilage morphology
abnormal rib morphology
long ribs
kyphosis
enlarged lumbar vertebrae
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 cartilage morphology
abnormal bone remodeling
Availability Mouse Genotype
Fbn1tm1.2Lysa/Fbn1tm1.2Lysa
Fbn1tm2Rmz/Fbn1tm2Rmz
Fbn1tm3.2Lysa/Fbn1tm3.2Lysa
Fbn1tm3Rmz/Fbn1tm3Rmz
Fbn1tm1.2Lysa/Fbn1+
Fbn1tm1Hcd/Fbn1+
Fbn1tm1Lper/Fbn1+ !
Fbn1tm3.2Lysa/Fbn1+
Fbn1Tsk/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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last database update
06/04/2019
MGI 6.14
The Jackson Laboratory