Phenotypes Associated with This Genotype

Genotype
MGI:6416492

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

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:59887 )

• most homozygotes die within minutes after birth due to respiratory insufficiency

prenatal lethality, incomplete penetrance ( J:59887 )

• some mutants die in mid-gestation

respiratory system

respiratory failure ( J:59887 )

growth/size/body

midface hypoplasia ( J:59887 )

protruding tongue ( J:59887 )

short snout ( J:59887 )

• underdeveloped snout

abnormal chest morphology ( J:59887 )

• very small thorax

skeleton

abnormal basicranium morphology ( J:59887 )

• smaller skull base

• closing of the angle at the base of the cranium is seen (90 degrees compared to 120 degrees in controls)

abnormal foramen magnum morphology ( J:59887 )

• smaller foramen magnum

enlarged cranium ( J:59887 )

abnormal viscerocranium morphology ( J:59887 )

• smaller facial bones

domed cranium ( J:59887 )

bowed radius ( J:59887 )

bowed ulna ( J:59887 )

short femur ( J:59887 )

• 38% shortening of the femur

bowed fibula ( J:59887 )

bowed tibia ( J:59887 )

short tibia ( J:59887 )

• 23% shortening of the tibia

abnormal long bone epiphyseal plate morphology ( J:59887 )

• growth plates of newborns are shorter and have a greater circumference with a complete failure of columnization

• the reserved (resting) zone is much smaller at E15

• lesions resembling ossification tufts consisting of foci of subchondral ossification extending into the growth plate separating the proliferating cells from the hypertrophic ones are seen

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

• the proliferative zones are much smaller at E15

abnormal long bone hypertrophic chondrocyte zone ( J:59887 )

• hypertrophic chondrocytes are absent at E15

decreased long bone epiphyseal plate size ( J:59887 )

• growth plates of newborns are shorter

• entire tibial growth plate is diminished in size at E15

abnormal ilium wing morphology ( J:59887 )

• the iliac wings are shorter and thicker with flat acetabular roofs

small thoracic cage ( J:59887 )

• the rib cage grows smaller and narrower

platyspondylia ( J:59887 )

abnormal vertebral pedicle morphology ( J:59887 )

• the pedicles are shorter and thicker

spinal stenosis ( J:59887 )

• narrowing of the spinal column

chondrodystrophy ( J:59887 )

delayed endochondral bone ossification ( J:59887 )

• delay in endochondral bone formation resulting in severe endochondral growth retardation

craniofacial

abnormal basicranium morphology ( J:59887 )

• smaller skull base

• closing of the angle at the base of the cranium is seen (90 degrees compared to 120 degrees in controls)

abnormal foramen magnum morphology ( J:59887 )

• smaller foramen magnum

enlarged cranium ( J:59887 )

abnormal viscerocranium morphology ( J:59887 )

• smaller facial bones

domed cranium ( J:59887 )

midface hypoplasia ( J:59887 )

protruding tongue ( J:59887 )

short snout ( J:59887 )

• underdeveloped snout

digestive/alimentary system

protruding tongue ( J:59887 )

limbs/digits/tail

abnormal limb morphology ( J:59887 )

• extremely wide extremities

bowed radius ( J:59887 )

bowed ulna ( J:59887 )

short femur ( J:59887 )

• 38% shortening of the femur

bowed fibula ( J:59887 )

bowed tibia ( J:59887 )

short tibia ( J:59887 )

• 23% shortening of the tibia

micromelia ( J:59887 )

• extremely short extremities

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