Phenotypes Associated with This Genotype

Genotype
MGI:3640343

• Allelic Composition: Fgfr3^tm3.1Cxd/Fgfr3⁺
• 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 )

• 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