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

Short thumb

Brachydactyly

Abnormal femur morphology

Fifth metacarpal with ulnar notch

Short metacarpal

Short palm

Small hand

Limitation of joint mobility

Joint stiffness

Delayed skeletal maturation

Abnormal epiphysis morphology

Ovoid vertebral bodies

Disease(s) Associated with FBN1

acromicric dysplasia

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

Fbn1^tm2Rmz/Fbn1^tm2Rmz

Fbn1^tm3.2Lysa/Fbn1^tm3.2Lysa

Fbn1^tm3Rmz/Fbn1^tm3Rmz

Fbn1^tm1Hcd/Fbn1⁺

Fbn1^tm1Lper/Fbn1⁺

Fbn1^tm3.2Lysa/Fbn1⁺

Fbn1^tm1.1Itl/Fbn1^tm3Rmz
Tg(Prrx1-cre)1Cjt/0 (conditional)

Fbn1^tm1.1Itl/Fbn1^tm3Rmz
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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