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Phenotypes Associated with This Genotype
Genotype
MGI:3640358
Allelic
Composition
Fgfr3tm5.1Cxd/Fgfr3+
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm5.1Cxd mutation (0 available); any Fgfr3 mutation (19 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• 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
• exhibit longer incisors
• severe dwarfism

skeleton
• shorter cranial base due to premature fusion and ossification of synochondroses
• skulls are reduced in size along the anteroposterior axis
• skulls are slightly larger along the left-right and dorsal-ventral axes
• exhibit longer incisors
• skulls become progressively more dome-shaped as mice age
• some exhibit bowed fibulas
• some exhibit bowed tibias
• 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
• fewer proliferating chondrocytes at P30
• 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
• growth plates of P30 or older mutants are narrower with fewer proliferating and hypertrophic chondrocytes
• growth plates are disorganized by E17.5 and show no clear boundaries between zones
• reduction in length of long bones
• synochondroses fuse prematurely and ossify, resulting in shorter cranial base
• exhibit reduced chondrocyte proliferation and differentiation
• premature ossification of synochondroses

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

craniofacial
• shorter cranial base due to premature fusion and ossification of synochondroses
• skulls are reduced in size along the anteroposterior axis
• skulls are slightly larger along the left-right and dorsal-ventral axes
• exhibit longer incisors
• skulls become progressively more dome-shaped as mice age

limbs/digits/tail
• some exhibit bowed fibulas
• some exhibit bowed tibias
• short tail bones


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory