Phenotypes Associated with This Genotype

Genotype
MGI:3640358

• Allelic Composition: Fgfr3^tm5.1Cxd/Fgfr3⁺
• Genetic Background: involves: 129S6/SvEvTac

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

mortality/aging

premature death ( J:67780 )

• many mutants die between 1 week and 6 months of age: if overgrown incisors are cut weekly to allow normal eating and drinking, some mutants survive up to 6 months of age

growth/size/body

long incisors ( J:67780 )

• exhibit longer incisors

disproportionate dwarf ( J:67780 )

• severe dwarfism

skeleton

abnormal cranium morphology ( J:67780 )

short basicranium ( J:67780 )

• shorter cranial base due to premature fusion and ossification of synochondroses

decreased cranium height ( J:67780 )

• skulls are reduced in size along the anteroposterior axis

increased cranium width ( J:67780 )

• skulls are slightly larger along the left-right and dorsal-ventral axes

long incisors ( J:67780 )

• exhibit longer incisors

domed cranium ( J:67780 )

• skulls become progressively more dome-shaped as mice age

bowed fibula ( J:67780 )

• some exhibit bowed fibulas

bowed tibia ( J:67780 )

• some exhibit bowed tibias

abnormal long bone epiphyseal plate morphology ( J:67780 )

• chondrocyte columns are markedly shorter

• chondrocytes in the maturing zone sometimes mingle with those in the hypertrophic zone in younger mice

• prehypertrophic chondrocyte-like cells are often seen in resting or proliferating zones

abnormal long bone epiphyseal plate proliferative zone ( J:67780 )

• fewer proliferating chondrocytes at P30

abnormal long bone hypertrophic chondrocyte zone ( J:67780 )

• hypertrophic chondrocytes are reduced in number at ages between E17.5 and P45

• less well differentiated small spherical chondrocytes, some of which are directly opposed to the ossification front, invade the hypertrophic zone

decreased width of hypertrophic chondrocyte zone ( J:67780 )

decreased long bone epiphyseal plate size ( J:67780 )

• growth plates of P30 or older mutants are narrower with fewer proliferating and hypertrophic chondrocytes

disorganized long bone epiphyseal plate ( J:67780 )

• growth plates are disorganized by E17.5 and show no clear boundaries between zones

decreased length of long bones ( J:67780 )

• reduction in length of long bones

short femur ( J:67780 )

abnormal chondrocyte morphology ( J:67780 )

• exhibit reduced chondrocyte proliferation

abnormal chondrocyte differentiation ( J:67780 )

• exhibit reduced chondrocyte differentiation

premature endochondral bone ossification ( J:67780 )

• premature ossification of synochondroses

premature cranial synchondrosis closure ( J:67780 )

• synochondroses fuse prematurely and ossify, resulting in shorter cranial base

reproductive system

reduced female fertility ( J:67780 )

♀ • 2 of 10 females mated with males produced one litter of offspring but they failed to produce subsequent litters, however no abnormalities are seen in the ovaries

male infertility ( J:67780 )

♂ • males are infertile although no apparent abnormalities are observed in the testes

craniofacial

abnormal cranium morphology ( J:67780 )

short basicranium ( J:67780 )

• shorter cranial base due to premature fusion and ossification of synochondroses

premature cranial synchondrosis closure ( J:67780 )

• synochondroses fuse prematurely and ossify, resulting in shorter cranial base

decreased cranium height ( J:67780 )

• skulls are reduced in size along the anteroposterior axis

increased cranium width ( J:67780 )

• skulls are slightly larger along the left-right and dorsal-ventral axes

long incisors ( J:67780 )

• exhibit longer incisors

domed cranium ( J:67780 )

• skulls become progressively more dome-shaped as mice age

limbs/digits/tail

short femur ( J:67780 )

bowed fibula ( J:67780 )

• some exhibit bowed fibulas

bowed tibia ( J:67780 )

• some exhibit bowed tibias

short tail ( J:67780 )

• short tail bones

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:67780
thanatophoric dysplasia		DOID:13481	OMIM:187600 OMIM:187601 OMIM:273680	J:67780