Phenotypes Associated with This Genotype

Genotype
MGI:5426513

• Allelic Composition: Fgfr3^tm2Llm/Fgfr3⁺; Tg(Col2a1-cre)1Bhr/?
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

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

growth/size/body

decreased body size ( J:183772 )

• dwarfism

skeleton

abnormal long bone morphology ( J:183772 )

decreased length of long bones ( J:183772 )

abnormal axial skeleton morphology ( J:183772 )

abnormal craniofacial bone morphology ( J:183772 )

domed cranium ( J:183772 )

abnormal thoracic cage morphology ( J:183772 )

• narrow trunk

short ribs ( J:183772 )

abnormal bone structure ( J:183772 )

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

abnormal trabecular bone morphology ( J:183772 )

• fewer subchondral trabeculae

• trabeculae only partially mineralized

• more abundant collagen deposition

• significantly lower bone volume/trabecular volume in distal metaphysis of the femur

abnormal skeleton development ( J:183772 )

abnormal long bone epiphyseal plate morphology ( J:183772 )

abnormal long bone epiphyseal ossification zone morphology ( J:183772 )

• smaller hypertrophic mineralization zone

abnormal long bone epiphyseal plate proliferative zone ( J:183772 )

• lack proliferative column organization

• proliferative zone reduced

decreased width of hypertrophic chondrocyte zone ( J:183772 )

• reduced hypertrophic zone

• small hypertrophic cells

abnormal long bone epiphysis morphology ( J:183772 )

• reduced size of epiphysis

abnormal bone mineralization ( J:183772 )

• defect in mineralization of calcified cartilage and primary spongiosa

delayed bone ossification ( J:183772 )

• delayed formation of secondary ossification centers

craniofacial

abnormal craniofacial bone morphology ( J:183772 )

domed cranium ( J:183772 )

hematopoietic system

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased

immune system

increased osteoclast cell number ( J:183772 )

• osteoclasts per bone area are increased

• osteoclast surface area/bone surface area is increased