Phenotypes Associated with This Genotype

Genotype
MGI:6416491

• Allelic Composition: Tg(FGFR3-G380R)7Aya/0
• Genetic Background: involves: BALB/c * C57BL/6

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

growth/size/body

short snout ( J:59887 )

abnormal chest morphology ( J:59887 )

• narrow thorax

disproportionate dwarf ( J:59887 )

skeleton

enlarged cranium ( J:59887 )

• slightly larger skull

short femur ( J:59887 )

• 16% shortening of the femur

short tibia ( J:59887 )

• 9% shortening of the tibia

abnormal long bone epiphyseal plate morphology ( J:59887 )

• some irregularly arranged chondrocytes are seen along the columns

• some mice show foci of vascularization and transverse tunneling of the cartilage in the growth plate

• growth plates in 1-week old mice exhibit decreased cell proliferation

abnormal long bone epiphyseal plate proliferative zone ( J:59887 )

• shorter chondrocyte columns with less proliferative cells

decreased width of hypertrophic chondrocyte zone ( J:59887 )

decreased long bone epiphyseal plate size ( J:59887 )

• shorter chondrocyte columns with less proliferative and hypertrophic cells

• growth plates of distal bones are less affected

• older mice show a marked reduction in the column size of growth plates due to less proliferating and hypertrophic chondrocytes

platyspondylia ( J:59887 )

spinal stenosis ( J:59887 )

• narrowing of the spinal column

delayed endochondral bone ossification ( J:59887 )

• mice show a delay in chondrocyte maturation, delay in chondrocyte terminal differentiation within the secondary ossification centers (replacement of cartilage by bone and vascular invasion within secondary ossification centers is not seen at 2 months of age), and a delay in mineralization

craniofacial

enlarged cranium ( J:59887 )

• slightly larger skull

short snout ( J:59887 )

limbs/digits/tail

short femur ( J:59887 )

• 16% shortening of the femur

short tibia ( J:59887 )

• 9% shortening of the tibia

short limbs ( J:59887 )

• mild shortening and broadening of extremities, particularly the proximal segments of long bones

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:59887