Phenotypes associated with this allele

• Allele Symbol: Fgf9^Eks
• Allele Name: elbow knee synostosis
• Allele ID: MGI:2182127
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgf9^Eks/Fgf9^Eks	involves: C57BL/6J * DBA/2J	MGI:3840441
ht2	Fgf9^Eks/Fgf9^+	involves: C57BL/6J * DBA/2J	MGI:3840442
ht3	Fgf9^Eks/Fgf9^tm1Dor	involves: 129S6/SvEvTac * C57BL/6J * DBA/2J	MGI:3840443

Genotype
MGI:3840441

hm1

• Allelic Composition: Fgf9^Eks/Fgf9^Eks
• Genetic Background: involves: C57BL/6J * DBA/2J

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

Skull, cochlear and axial skeleton abnormalities in Fgf9^Eks/Fgf9^Eks mice

mortality/aging

neonatal lethality, complete penetrance ( J:77537 )

• mice die shortly after birth

skeleton

enlarged Meckel's cartilage ( J:77537 )

• hypertrophic

abnormal temporal bone morphology ( J:77537 )

• hypertrophic

short premaxilla ( J:77537 )

short nasal bone ( J:77537 )

abnormal long bone morphology ( J:77537 )

abnormal humerus morphology ( J:77537 )

• the humerus and radius are fused

increased diameter of humerus ( J:77537 )

short humerus ( J:77537 )

abnormal radius morphology ( J:77537 )

• the humerus and radius are fused

short radius ( J:77537 )

increased diameter of radius ( J:77537 )

short ulna ( J:77537 )

increased diameter of ulna ( J:77537 )

short femur ( J:77537 )

increased diameter of femur ( J:77537 )

increased diameter of fibula ( J:77537 )

short fibula ( J:77537 )

increased diameter of tibia ( J:77537 )

short tibia ( J:77537 )

abnormal sternum morphology ( J:77537 )

• ossification centers are fused in the caudal half unlike in wild-type mice

short sternum ( J:77537 )

wide ribs ( J:77537 )

• thickened ribs

abnormal vertebral arch morphology ( J:77537 )

• ossification centers of vertebral bodies are flatter than in wild-type mice

abnormal joint morphology ( J:77537 )

• mice lack knee and elbow joints

• however, the cartilage separating the humerus and ulna is present

fusion of vertebral arches ( J:77537 )

synostosis ( J:77537 , J:146802 )

• the humerus and radius are fused (J:77537)

• in the cartilaginous and skeletal components of the elbow joint (J:146802)

premature coronal suture closure ( J:77537 , J:146802 )

• premature fusion of the coronal sutures (J:77537)

• premature fusion of the coronal sutures (J:146802)

premature sagittal suture closure ( J:77537 )

• premature fusion of the sagittal sutures

respiratory system

short nasal bone ( J:77537 )

abnormal lung morphology ( J:77537 )

• lungs are less branched than in wild-type mice

small lung ( J:77537 )

hypopnea ( J:77537 )

• mice exhibit agonal breathing

vision/eye

exophthalmos ( J:77537 )

ocular hypertelorism ( J:77537 )

digestive/alimentary system

cleft secondary palate ( J:77537 )

• in the secondary palate

hearing/vestibular/ear

increased cochlea size ( J:77537 )

• hypertrophic

increased tympanic ring size ( J:77537 )

• hypertrophic

homeostasis/metabolism

cyanosis ( J:77537 )

limbs/digits/tail

abnormal humerus morphology ( J:77537 )

• the humerus and radius are fused

increased diameter of humerus ( J:77537 )

short humerus ( J:77537 )

abnormal radius morphology ( J:77537 )

• the humerus and radius are fused

short radius ( J:77537 )

increased diameter of radius ( J:77537 )

short ulna ( J:77537 )

increased diameter of ulna ( J:77537 )

short femur ( J:77537 )

increased diameter of femur ( J:77537 )

increased diameter of fibula ( J:77537 )

short fibula ( J:77537 )

increased diameter of tibia ( J:77537 )

short tibia ( J:77537 )

short limbs ( J:77537 )

short tail ( J:77537 )

craniofacial

enlarged Meckel's cartilage ( J:77537 )

• hypertrophic

abnormal temporal bone morphology ( J:77537 )

• hypertrophic

short premaxilla ( J:77537 )

short nasal bone ( J:77537 )

midface hypoplasia ( J:77537 )

• mid-face hypoplasia

high forehead ( J:77537 )

• tall forehead

cleft secondary palate ( J:77537 )

• in the secondary palate

behavior/neurological

abnormal voluntary movement ( J:77537 )

• mice do not creep after birth

growth/size/body

short premaxilla ( J:77537 )

short nasal bone ( J:77537 )

midface hypoplasia ( J:77537 )

• mid-face hypoplasia

high forehead ( J:77537 )

• tall forehead

cleft secondary palate ( J:77537 )

• in the secondary palate

Genotype
MGI:3840442

ht2

• Allelic Composition: Fgf9^Eks/Fgf9⁺
• Genetic Background: involves: C57BL/6J * DBA/2J

Kinky tail, elbow joint fusion and knee joint dysplasia in Fgf9^Eks/Fgf9⁺ mice

mortality/aging

lethality at weaning, incomplete penetrance ( J:77537 )

• severely affected mice die around weaning

skeleton

fused joints ( J:77537 )

• elbow joints and eventually knee joints fuse unlike in wild-type mice

synostosis ( J:146802 )

• in the cartilaginous components of the elbow joint

growth/size/body

postnatal growth retardation ( J:77537 )

• mice exhibit growth retardation compared to wild-type mice

• however, mice eventually catch up to wild-type mice

limbs/digits/tail

kinked tail ( J:77537 )

Genotype
MGI:3840443

ht3

• Allelic Composition: Fgf9^Eks/Fgf9^tm1Dor
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J * DBA/2J

skeleton

synostosis ( J:146802 )

• in the cartilaginous and skeletal components of the elbow joint