Phenotypes Associated with This Genotype

Genotype
MGI:5632165

• Allelic Composition: Tg(Col2a1-Fgfr3/GH)BDor/0
• Genetic Background: FVB/N-Tg(Col2a1-Fgfr3/GH)BDor

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

growth/size/body

proportional dwarf ( J:50292 )

• mice exhibit achondroplasia, with limb bones proportionally shortened

skeleton

abnormal osteoclast differentiation ( J:50292 )

• slowing of chondrocyte differentiation

abnormal craniofacial bone morphology ( J:50292 )

• craniofacial skeletal hypoplasia

domed cranium ( J:50292 )

abnormal appendicular skeleton morphology ( J:50292 )

• appendicular skeletal hypoplasia

abnormal limb bone morphology ( J:50292 )

• proximal and distal bones of the limbs are proportionally shortened, with both the proximal and distal skeletal elements 15-21% shorter than in wild-type mice

abnormal long bone epiphyseal ossification zone morphology ( J:50292 )

abnormal long bone epiphyseal plate proliferative zone ( J:50292 )

• postnatal formation of the secondary ossification centers in the epiphyses of the proximal tibia and distal femur is delayed by 2-3 days

decreased width of hypertrophic chondrocyte zone ( J:50292 )

decreased long bone epiphyseal plate size ( J:50292 )

decreased length of long bones ( J:50292 )

• long bones formed by endochondral ossification are shortened

kyphosis ( J:50292 )

• about 15% of mice develop severe kyphosis in the cervico-thoracic spine

abnormal vertebrae morphology ( J:50292 )

• caudal aspects of vertebrae are blunted, particularly at the articular surfaces

• rostrally, vertebrae show abnormalities in the dorsal midline, including absence of the spinous processes and sometimes a non-ossified gap in the dorsal midline of both cervical and thoracic vertebrae

abnormal vertebrae development ( J:50292 )

• defects in dorsal vertebrae development

absent vertebral spinous process ( J:50292 )

• rostrally, vertebrae show absence of spinous processes

axial skeleton hypoplasia ( J:50292 )

abnormal perichondrium morphology ( J:50292 )

• decrease in cell proliferation in the perichondrium

delayed endochondral bone ossification ( J:50292 )

• postnatal formation of secondary ossification centers in the epiphyses of the proximal tibia and distal femur is delayed by 2-3 days

abnormal chondrocyte physiology ( J:50292 )

• chondrocyte proliferation in the proximal tibia, distal femur and proximal humerus of 20-day old mice is reduced 60% relative to wild-type mice

cellular

abnormal osteoclast differentiation ( J:50292 )

• slowing of chondrocyte differentiation

craniofacial

abnormal craniofacial bone morphology ( J:50292 )

• craniofacial skeletal hypoplasia

domed cranium ( J:50292 )

hematopoietic system

abnormal osteoclast differentiation ( J:50292 )

• slowing of chondrocyte differentiation

immune system

abnormal osteoclast differentiation ( J:50292 )

• slowing of chondrocyte differentiation

limbs/digits/tail

abnormal limb bone morphology ( J:50292 )

• proximal and distal bones of the limbs are proportionally shortened, with both the proximal and distal skeletal elements 15-21% shorter than in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:50292