Mouse Genome Informatics
hm
    Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
involves: 129S6/SvEvTac
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       

Smaller body size, dome-shaped heads and reduced bone density in Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd and Fgfr3tm3.1Cxd/Fgfr3+ mice

growth/size/body
• exhibit macrocephaly due to retarded growth of the cranial base
• exhibit pronounced dwarfism during postnatal development

skeleton
• exhibit enhanced osteoblast differentiation
• exhibit retarded growth and thus shortening of cranial base
• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones
• skulls are reduced in size along the anterior-posterior axis
• skulls are increased in size along the left-right and dorsal-ventral axes
• apparent at P7
• enhanced activity of osteoclasts
• humeri average 56% of the length of wild-type at P15
• femurs average 60% of the length of wild-type at P15
• growth plates show expanded resting zone and decreased maturation and hypertrophic zones
• decrease in chondrocyte proliferation in growth plates
• the proliferation zone is disorganized and fails to form long chondrocyte columns
• the maturation zone is disorganized and fails to form long chondrocyte columns
• exhibit less cell proliferation in the metaphyseal bone tissue
• vertebrae average 85% of the length of wild-type at P15
• long bones have less primary spongiosa
• beginning from P6, synchondroses of the cranial base bones initiate an accelerated process of closure and replacement by bone indicating premature ossification of synchondroses
• decrease in growth plate chondrocyte proliferation
• exhibit advanced osteogenesis
• exhibit delayed formation of the secondary ossification center
• exhibit retarded endochondral bone formation
• premature ossification of synchondroses

craniofacial
• exhibit retarded growth and thus shortening of cranial base
• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones
• skulls are reduced in size along the anterior-posterior axis
• skulls are increased in size along the left-right and dorsal-ventral axes
• apparent at P7

limbs/digits/tail
• humeri average 56% of the length of wild-type at P15
• femurs average 60% of the length of wild-type at P15
• tails grow slowly and stay about 60-70% of wild-type

immune system
• enhanced activity of osteoclasts

cellular
• exhibit enhanced osteoblast differentiation

hematopoietic system
• enhanced activity of osteoclasts

Mouse Models of Human Disease
OMIM IDRef(s)
Achondroplasia; ACH 100800 J:69849