Symbol Name ID |
Fbn1
fibrillin 1 MGI:95489 |
! | 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 |
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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) |
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Fbn1tm1.1Itl/Fbn1tm3Rmz Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0 (conditional) |
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 04/16/2024 MGI 6.23 |
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