Phenotypes associated with this allele

• Allele Symbol: Fgfr3^tm3.1Cxd
• Allele Name: targeted mutation 3.1, Chu-Xia Deng
• Allele ID: MGI:2135673
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd	involves: 129S6/SvEvTac	MGI:3640338
ht2	Fgfr3^tm3.1Cxd/Fgfr3^+	involves: 129S6/SvEvTac	MGI:3640343

Genotype
MGI:3640338

hm1

• Allelic Composition: Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd
• Genetic Background: involves: 129S6/SvEvTac

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

Smaller body size, dome-shaped heads and reduced bone density in Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd and Fgfr3^tm3.1Cxd/Fgfr3⁺ mice

growth/size/body

megacephaly ( J:69849 )

• exhibit macrocephaly due to retarded growth of the cranial base

disproportionate dwarf ( J:69849 )

• exhibit pronounced dwarfism during postnatal development

skeleton

enhanced osteoblast differentiation ( J:69849 )

• exhibit enhanced osteoblast differentiation

decreased chondrocyte proliferation ( J:69849 )

• decrease in growth plate chondrocyte proliferation

abnormal cranium morphology ( J:69849 )

short basicranium ( J:69849 )

• exhibit retarded growth and thus shortening of cranial base

decreased cranium height ( J:69849 )

• skulls are reduced in size along the anterior-posterior axis

increased cranium width ( J:69849 )

• skulls are increased in size along the left-right and dorsal-ventral axes

small presphenoid bone ( J:69849 )

• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones

domed cranium ( J:69849 )

• apparent at P7

abnormal osteoclast physiology ( J:69849 )

• enhanced activity of osteoclasts

abnormal long bone morphology ( J:69849 )

short humerus ( J:69849 )

• humeri average 56% of the length of wild-type at P15

short femur ( J:69849 )

• femurs average 60% of the length of wild-type at P15

abnormal long bone epiphyseal plate morphology ( J:69849 )

• growth plates show expanded resting zone and decreased maturation and hypertrophic zones

• decrease in chondrocyte proliferation in growth plates

abnormal long bone epiphyseal plate proliferative zone ( J:69849 )

• the proliferation zone is disorganized and fails to form long chondrocyte columns

decreased width of hypertrophic chondrocyte zone ( J:69849 )

disorganized long bone epiphyseal plate ( J:69849 )

• the maturation zone is disorganized and fails to form long chondrocyte columns

abnormal long bone metaphysis morphology ( J:69849 )

• exhibit less cell proliferation in the metaphyseal bone tissue

small vertebrae ( J:69849 )

• vertebrae average 85% of the length of wild-type at P15

decreased bone mineral density ( J:69849 )

abnormal trabecular bone morphology ( J:69849 )

• long bones have less primary spongiosa

abnormal bone ossification ( J:69849 )

• exhibit advanced osteogenesis

premature cranial synchondrosis closure ( J:69849 )

• beginning from P6, synchondroses of the cranial base bones initiate an accelerated process of closure and replacement by bone indicating premature ossification of synchondroses

delayed bone ossification ( J:69849 )

• exhibit delayed formation of the secondary ossification center

delayed endochondral bone ossification ( J:69849 )

• exhibit retarded endochondral bone formation

craniofacial

abnormal cranium morphology ( J:69849 )

short basicranium ( J:69849 )

• exhibit retarded growth and thus shortening of cranial base

premature cranial synchondrosis closure ( J:69849 )

• beginning from P6, synchondroses of the cranial base bones initiate an accelerated process of closure and replacement by bone indicating premature ossification of synchondroses

decreased cranium height ( J:69849 )

• skulls are reduced in size along the anterior-posterior axis

increased cranium width ( J:69849 )

• skulls are increased in size along the left-right and dorsal-ventral axes

small presphenoid bone ( J:69849 )

• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones

domed cranium ( J:69849 )

• apparent at P7

limbs/digits/tail

short humerus ( J:69849 )

• humeri average 56% of the length of wild-type at P15

short femur ( J:69849 )

• femurs average 60% of the length of wild-type at P15

short tail ( J:69849 )

• tails grow slowly and stay about 60-70% of wild-type

immune system

abnormal osteoclast physiology ( J:69849 )

• enhanced activity of osteoclasts

cellular

enhanced osteoblast differentiation ( J:69849 )

• exhibit enhanced osteoblast differentiation

decreased chondrocyte proliferation ( J:69849 )

• decrease in growth plate chondrocyte proliferation

hematopoietic system

abnormal osteoclast physiology ( J:69849 )

• enhanced activity of osteoclasts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:69849

Genotype
MGI:3640343

ht2

• Allelic Composition: Fgfr3^tm3.1Cxd/Fgfr3⁺
• Genetic Background: involves: 129S6/SvEvTac

Smaller body size, dome-shaped heads and reduced bone density in Fgfr3^tm3.1Cxd/Fgfr3^tm3.1Cxd and Fgfr3^tm3.1Cxd/Fgfr3⁺ mice

growth/size/body

megacephaly ( J:69849 )

• less affected than in homozyogtes

disproportionate dwarf ( J:69849 )

• less affected than in homozygotes

skeleton

abnormal cranium morphology ( J:69849 )

decreased cranium height ( J:69849 )

• skulls are reduced in size along the anterior-posterior axis

increased cranium width ( J:69849 )

• skulls are increased in size along the left-right and dorsal-ventral axes

domed cranium ( J:69849 )

• less affected than in homozyogtes

abnormal long bone epiphyseal plate morphology ( J:69849 )

• exhibit an intermediate phenotype between wild-type and homozygous mutants, with some expansion of the resting zone and some reduction in the maturation and hypertrophic zones

abnormal synchondrosis ( J:69849 )

• synchondrosis exhibit an intermediate phenotype between wild-type and homozygotes (thinner than wild-type) at P6

craniofacial

abnormal cranium morphology ( J:69849 )

decreased cranium height ( J:69849 )

• skulls are reduced in size along the anterior-posterior axis

increased cranium width ( J:69849 )

• skulls are increased in size along the left-right and dorsal-ventral axes

domed cranium ( J:69849 )

• less affected than in homozyogtes

limbs/digits/tail

short tail ( J:69849 )

• less affected than in homozyogtes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
achondroplasia		DOID:4480	OMIM:100800	J:69849