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Phenotypes Associated with This Genotype
Genotype
MGI:3640338
Allelic
Composition
Fgfr3tm3.1Cxd/Fgfr3tm3.1Cxd
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm3.1Cxd mutation (0 available); any Fgfr3 mutation (10 available)
phenotype observed in females
phenotype observed in males
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 (J:69849)
• exhibit macrocephaly due to retarded growth of the cranial base (J:69849)
• exhibit pronounced dwarfism during postnatal development (J:69849)
• exhibit pronounced dwarfism during postnatal development (J:69849)

skeleton
• exhibit enhanced osteoblast differentiation (J:69849)
• exhibit enhanced osteoblast differentiation (J:69849)
• exhibit retarded growth and thus shortening of cranial base (J:69849)
• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones (J:69849)
• exhibit retarded growth and thus shortening of cranial base (J:69849)
• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones (J:69849)
• skulls are reduced in size along the anterior-posterior axis (J:69849)
• skulls are reduced in size along the anterior-posterior axis (J:69849)
• skulls are increased in size along the left-right and dorsal-ventral axes (J:69849)
• skulls are increased in size along the left-right and dorsal-ventral axes (J:69849)
• apparent at P7 (J:69849)
• apparent at P7 (J:69849)
• enhanced activity of osteoclasts (J:69849)
• enhanced activity of osteoclasts (J:69849)
• humeri average 56% of the length of wild-type at P15 (J:69849)
• humeri average 56% of the length of wild-type at P15 (J:69849)
• femurs average 60% of the length of wild-type at P15 (J:69849)
• femurs average 60% of the length of wild-type at P15 (J:69849)
• growth plates show expanded resting zone and decreased maturation and hypertrophic zones (J:69849)
• decrease in chondrocyte proliferation in growth plates (J:69849)
• growth plates show expanded resting zone and decreased maturation and hypertrophic zones (J:69849)
• decrease in chondrocyte proliferation in growth plates (J:69849)
• the proliferation zone is disorganized and fails to form long chondrocyte columns (J:69849)
• the proliferation zone is disorganized and fails to form long chondrocyte columns (J:69849)
• the maturation zone is disorganized and fails to form long chondrocyte columns (J:69849)
• the maturation zone is disorganized and fails to form long chondrocyte columns (J:69849)
• exhibit less cell proliferation in the metaphyseal bone tissue (J:69849)
• exhibit less cell proliferation in the metaphyseal bone tissue (J:69849)
• vertebrae average 85% of the length of wild-type at P15 (J:69849)
• vertebrae average 85% of the length of wild-type at P15 (J:69849)
• long bones have less primary spongiosa (J:69849)
• long bones have less primary spongiosa (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 (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 (J:69849)
• decrease in growth plate chondrocyte proliferation (J:69849)
• decrease in growth plate chondrocyte proliferation (J:69849)
• exhibit advanced osteogenesis (J:69849)
• exhibit advanced osteogenesis (J:69849)
• exhibit delayed formation of the secondary ossification center (J:69849)
• exhibit delayed formation of the secondary ossification center (J:69849)
• exhibit retarded endochondral bone formation (J:69849)
• exhibit retarded endochondral bone formation (J:69849)
• premature ossification of synchondroses (J:69849)
• premature ossification of synchondroses (J:69849)

craniofacial
• exhibit retarded growth and thus shortening of cranial base (J:69849)
• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones (J:69849)
• exhibit retarded growth and thus shortening of cranial base (J:69849)
• the relative size of the presphenoid is much smaller than the occipital and basosphenoid bones (J:69849)
• skulls are reduced in size along the anterior-posterior axis (J:69849)
• skulls are reduced in size along the anterior-posterior axis (J:69849)
• skulls are increased in size along the left-right and dorsal-ventral axes (J:69849)
• skulls are increased in size along the left-right and dorsal-ventral axes (J:69849)
• apparent at P7 (J:69849)
• apparent at P7 (J:69849)

limbs/digits/tail
• humeri average 56% of the length of wild-type at P15 (J:69849)
• humeri average 56% of the length of wild-type at P15 (J:69849)
• femurs average 60% of the length of wild-type at P15 (J:69849)
• femurs average 60% of the length of wild-type at P15 (J:69849)
• tails grow slowly and stay about 60-70% of wild-type (J:69849)
• tails grow slowly and stay about 60-70% of wild-type (J:69849)

immune system
• enhanced activity of osteoclasts (J:69849)
• enhanced activity of osteoclasts (J:69849)

cellular
• exhibit enhanced osteoblast differentiation (J:69849)
• exhibit enhanced osteoblast differentiation (J:69849)

hematopoietic system
• enhanced activity of osteoclasts (J:69849)
• enhanced activity of osteoclasts (J:69849)

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


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
02/02/2016
MGI 6.02
The Jackson Laboratory