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Phenotypes Associated with This Genotype
Genotype
MGI:6416454
Allelic
Composition
Fgfr3tm1.1(FGFR3*)Ytc/Fgfr3tm1.1(FGFR3*)Ytc
Genetic
Background
involves: 129
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1(FGFR3*)Ytc mutation (0 available); any Fgfr3 mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• majority of mice die at around 1 year of age
• lower survival rate at birth
• higher mortality rate before 4 weeks of age

growth/size/body
• protrusion of the lower incisors because of changes in the skull
• short snout is seen at 10 days to 1 month of age
• rounded head is seen at 10 days to 1 month of age
• dwarfism phenotypes become gradually evident in mice; limbs are disproportionately shortened relative to body length

skeleton
• primary chondrocytes show lower proliferation rates
• skull is rounded in newborns
• the jugum limitans, the cranial suture that separates the frontal and nasal bones, is absent
• calvarial bones are distorted due to a positional shift and compression of the frontal and parietal bones
• protrusion of the lower incisors because of changes in the skull
• fewer osteoclasts in femurs at 1 year of age
• femur length is reduced 42% in newborns
• femurs are thick
• femurs show widened diaphysis
• reduction in the number of proliferative chondrocytes
• arrangement of chondrocyte columns is disturbed with an increased amount of space between the columns at 4 and 8 weeks of age
• however, the arrangement of chondrocyte columns in the growth plate remains normal before 2 weeks of age and epiphyseal structure is normal at birth
• growth plates are shorter, with a shorter proliferative zone at 2, 4, and 8 weeks of age
• osteocalcin expression which is associated with early stages of matrix ossification is increased in chondrocytes of the hypertrophic zone of the distal femur at 2 weeks of age
• reduction in hypertrophic zone at 8 weeks of age
• femurs show flared metphyses
• distal femoral metaphysis shows lower bone volume
• reduction in the growth of the longitudinal trabecular bone in the distal femoral metaphysis is seen at several postnatal development stages
• narrower rib cage
• shorter intervertebral distance between cervical vertebrae
• mice develop kyphosis at around 2 weeks of age
• severe curvature of the cervical and upper thoracic vertebrae, with almost completely folded upper thoracic vertebrae
• low bone density at birth, in adolescent and adult
• distal femoral metaphysis shows lower bone volume
• trabecular bone volume is decreased in distal femur metaphysis at birth and 1 year of age
• fewer osteoblasts in femurs at 1 year of age
• trabecular number is decreased in distal femur metaphysis at birth and 1 year of age
• trabecular separation is increased in distal femur metaphysis at birth and 1 year of age
• trabecular thickness is decreased in distal femur metaphysis at birth and 1 year of age
• bone-forming process is disturbed
• the fewer osteoblasts and osteoclasts in femurs suggests that bone turnover rate is altered
• newborns show premature suture closure
• the metopic sutures are unilaterally fused or partially absent
• formation of the secondary ossification center is delayed

craniofacial
• skull is rounded in newborns
• the jugum limitans, the cranial suture that separates the frontal and nasal bones, is absent
• calvarial bones are distorted due to a positional shift and compression of the frontal and parietal bones
• protrusion of the lower incisors because of changes in the skull
• short snout is seen at 10 days to 1 month of age
• rounded head is seen at 10 days to 1 month of age

cellular
• primary chondrocytes show lower proliferation rates

hematopoietic system
• fewer osteoclasts in femurs at 1 year of age

immune system
• fewer osteoclasts in femurs at 1 year of age

limbs/digits/tail
• femur length is reduced 42% in newborns
• femurs are thick
• newborns show proximal limb shortening with relatively normally sized trunks

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
achondroplasia DOID:4480 OMIM:100800
J:287271


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/23/2021
MGI 6.16
The Jackson Laboratory