Phenotypes associated with this allele

• Allele Symbol: Fgf9^tm1Zgwg
• Allele Name: targeted mutation 1, Zhugang Wang
• Allele ID: MGI:5910441
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgf9^tm1Zgwg/Fgf9^tm1Zgwg	involves: 129S1/Sv	MGI:6161224
ht2	Fgf9^tm1Zgwg/Fgf9^+	involves: 129S1/Sv	MGI:6161223

Genotype
MGI:6161224

hm1

• 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

Genotype
MGI:6161223

ht2

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

behavior/neurological

abnormal voluntary movement ( J:241783 )

• dyskinesia of elbow and/or knee joints

craniofacial

abnormal incisor morphology ( J:241783 )

• 9% of mice exhibit overgrowth of incisors

misaligned incisors ( J:241783 )

• in 9% of mice

abnormal tooth development ( J:241783 )

• 9% of mice exhibit abnormal tooth development, with overgrowth and non-alignment of incisor teeth

growth/size/body

abnormal incisor morphology ( J:241783 )

• 9% of mice exhibit overgrowth of incisors

misaligned incisors ( J:241783 )

• in 9% of mice

abnormal tooth development ( J:241783 )

• 9% of mice exhibit abnormal tooth development, with overgrowth and non-alignment of incisor teeth

limbs/digits/tail

curly tail ( J:241783 )

skeleton

abnormal incisor morphology ( J:241783 )

• 9% of mice exhibit overgrowth of incisors

misaligned incisors ( J:241783 )

• in 9% of mice

abnormal tooth development ( J:241783 )

• 9% of mice exhibit abnormal tooth development, with overgrowth and non-alignment of incisor teeth

abnormal coccyx morphology ( J:241783 )

• malalignment of the tail bone

abnormal joint morphology ( J:241783 )

• mice that exhibit fusions of the elbow and knee joints have enhanced bone density in the joints

abnormal intervertebral disk morphology ( J:241783 )

• the intervertebral disk disappears in areas of synostosis between adjacent caudate vertebra

fused joints ( J:241783 )

• 5.5% of 3 month old mice exhibit partial or complete fusions of the elbow and knee joints and enhanced bone density

vertebral fusion ( J:241783 )

• fusion of vertebrae joints

synostosis ( J:241783 )

• the abnormal joints of caudate vertebrae have synostosis between adjacent vertebrae and the intervertebral disk has disappeared

increased bone ossification ( J:241783 )

• the articular surface of the femur and tibia are destroyed and fused with an enhancement of ossification

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