Phenotypes associated with this allele

• Allele Symbol: Tg(FGFR3-G380R)7Aya
• Allele Name: transgene insertion 7, Avner Yayon
• Allele ID: MGI:2386939
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
tg1	Tg(FGFR3-G380R)7Aya/Tg(FGFR3-G380R)7Aya	involves: BALB/c * C57BL/6	MGI:6416492
tg2	Tg(FGFR3-G380R)7Aya/0	involves: BALB/c * C57BL/6	MGI:6416491

Genotype
MGI:6416492

tg1

• 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

Genotype
MGI:6416491

tg2

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

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