Phenotypes Associated with This Genotype

Genotype
MGI:6161224

• Allelic Composition: Fgf9^tm1Zgwg/Fgf9^tm1Zgwg
• Genetic Background: involves: 129S1/Sv

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

postnatal lethality ( J:241783 )

• mice die within 6 days after birth

skeleton

abnormal cartilage development ( J:241783 )

• joints exhibit excess chondrogenesis, with regions of vertebral joints filled with excessive chondrocytes

• mesenchymal cells from E11.5 limbs show enhanced chondrogenesis

increased chondrocyte number ( J:241783 )

• most regions of vertebral joints are filled with excessive chondrocytes

• the interzone mesenchymal cells are replaced by chondrocytes in E13.5 forelimbs

abnormal joint morphology ( J:241783 )

• severe malformation of multiple joints

abnormal knee joint morphology ( J:241783 )

• knee joints are replaced by cartilage

calcified joint ( J:241783 )

• elbow joints are replaced by calcified bone

fused joints ( J:241783 )

• elbow and knee joints are fused and display excess bone and cartilage

caudal vertebral fusion ( J:241783 )

• joints of caudal vertebrae are fused on one side

synostosis ( J:241783 )

• joint synostosis is caused by the failure of interzone formation with excess chondrogenesis

delayed bone ossification ( J:241783 )

• delay in primary ossification center formation in the femur at E16.5

increased bone ossification ( J:241783 )

• caudal vertebrae exhibit enhanced ossification

behavior/neurological

abnormal suckling behavior ( J:241783 )

• mice fail to suckle

abnormal voluntary movement ( J:241783 )

• mice exhibit severe dyskinesia at birth

endocrine/exocrine glands

abnormal testis morphology ( J:241783 )

• testicles exhibit dysplasia in newborns

limbs/digits/tail

abnormal knee joint morphology ( J:241783 )

• knee joints are replaced by cartilage

abnormal limb development ( J:241783 )

• knee and elbow joint cavities do not form and are replaced by cartilage in E16.5 limbs

• during interzone formation, E13.5 limbs show that the interzone in the elbow and knee joints is absent and exhibit ectopic chondrocytes

• however, the two opposing growth plates in E13.5 and E16.5 joints form normally

caudal vertebral fusion ( J:241783 )

• joints of caudal vertebrae are fused on one side

curly tail ( J:241783 )

• mice have twisted tails due to caudal vertebrae joint fusion on one side and enhanced ossification

renal/urinary system

renal/urinary system phenotype ( J:241783 )

N • mice exhibit normal kidney development

reproductive system

abnormal testis morphology ( J:241783 )

• testicles exhibit dysplasia in newborns

respiratory system

respiratory system phenotype ( J:241783 )

N • mice exhibit normal lung development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
multiple synostoses syndrome		DOID:0050794	OMIM:PS186500	J:241783