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Phenotypes Associated with This Genotype
Genotype
MGI:3640198
Allelic
Composition
Fgfr3tm1.1Iwa/Fgfr3+
Genetic
Background
involves: 129S6/SvEvTac * FVB/N * NIH Black Swiss
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Fgfr3tm1.1Iwa mutation (0 available); any Fgfr3 mutation (10 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• one set of mutants (52%) that are very small, die 4 weeks after birth (J:70061)
• 24% of mildly affected mutants live longer than 3 months, including some up to as long as wild-type (J:70061)
• Background Sensitivity: on a CD background, about 46% that are severely affected die early while 14% live longer than 3 months (J:70061)
• one set of mutants (52%) that are very small, die 4 weeks after birth (J:70061)
• 24% of mildly affected mutants live longer than 3 months, including some up to as long as wild-type (J:70061)
• Background Sensitivity: on a CD background, about 46% that are severely affected die early while 14% live longer than 3 months (J:70061)

growth/size/body
• distinguishable at birth by a mildly round head (J:70061)
• distinguishable at birth by a mildly round head (J:70061)
• those that die 4 weeks after birth are very small (J:70061)
• those that die 4 weeks after birth are very small (J:70061)

craniofacial
• enlarged hyoid bone (J:70061)
• enlarged hyoid bone (J:70061)
• seen in severely affected mice, although some several severely affected mice die without malocclusion (J:70061)
• seen in severely affected mice, although some several severely affected mice die without malocclusion (J:70061)

limbs/digits/tail
• shorter limbs with particularly shortened ossified zone (J:70061)
• shorter limbs with particularly shortened ossified zone (J:70061)

skeleton
• enlarged hyoid bone (J:70061)
• enlarged hyoid bone (J:70061)
• seen in severely affected mice, although some several severely affected mice die without malocclusion (J:70061)
• seen in severely affected mice, although some several severely affected mice die without malocclusion (J:70061)
• wider and shorter limb long bones (J:70061)
• wider and shorter limb long bones (J:70061)
• delay in sternabrae ossification at P1 (J:70061)
• delay in sternabrae ossification at P1 (J:70061)
• thickening and slight bifurcation of the costal cartilage is seen at P1 and at 15 months of age (J:70061)
• at 15 months of age, observe clonal proliferation of chondrocytes in costal cartilage (J:70061)
• thinner layer of perichondrium in costal cartilage (J:70061)
• thickening and slight bifurcation of the costal cartilage is seen at P1 and at 15 months of age (J:70061)
• at 15 months of age, observe clonal proliferation of chondrocytes in costal cartilage (J:70061)
• thinner layer of perichondrium in costal cartilage (J:70061)
• smaller rib cage is evident after P4 (J:70061)
• smaller rib cage is evident after P4 (J:70061)
• exhibit curvature of the axial skeleton (J:70061)
• exhibit curvature of the axial skeleton (J:70061)
• decrease in chondrocyte differentiation (J:70061)
• exhibit abnormal chondrocyte proliferation, with increased proliferation during embryo development but decreased proliferation in the postnatal growth plate chondrocytes (J:70061)
• chondrocytes in the medial part of the femur are smaller and premature at E15.5 (J:70061)
• chondrocytes around the blood vessel in epiphysis are smaller at P4 (J:70061)
• decrease in chondrocyte differentiation (J:70061)
• exhibit abnormal chondrocyte proliferation, with increased proliferation during embryo development but decreased proliferation in the postnatal growth plate chondrocytes (J:70061)
• chondrocytes in the medial part of the femur are smaller and premature at E15.5 (J:70061)
• chondrocytes around the blood vessel in epiphysis are smaller at P4 (J:70061)
• overgrowth of hyaline cartilage, including the trachea and the nasal septa and hypertrophy of the thyroid, cricoid, and tracheal cartilages (J:70061)
• overgrowth of hyaline cartilage, including the trachea and the nasal septa and hypertrophy of the thyroid, cricoid, and tracheal cartilages (J:70061)
• growth plates at the junctions of the rib-bone and the costal cartilage at P17 are abnormal (J:70061)
• growth plates at the junctions of the rib-bone and the costal cartilage at P17 are abnormal (J:70061)
• exhibit ingrowth of mesenchymal tissue across the physis at P17 (J:70061)
• some undifferentiated chondrocytes intermingle with the hypertrophic chondrocytes at E15.5 (J:70061)
• thicker growth plate with shorter hypertrophic zones and proliferating columns at P17 (J:70061)
• exhibit ingrowth of mesenchymal tissue across the physis at P17 (J:70061)
• some undifferentiated chondrocytes intermingle with the hypertrophic chondrocytes at E15.5 (J:70061)
• thicker growth plate with shorter hypertrophic zones and proliferating columns at P17 (J:70061)
• chondrocytes have shorter columnar structures of the proliferating zone (J:70061)
• chondrocytes have shorter columnar structures of the proliferating zone (J:70061)
• hypertrophic chondrocytes are sparse and not fully mature (J:70061)
• hypertrophic chondrocytes are sparse and not fully mature (J:70061)
• delay formation of the secondary ossification center (J:70061)
• delay in sternabrae ossification at P1 (J:70061)
• delay formation of the secondary ossification center (J:70061)
• delay in sternabrae ossification at P1 (J:70061)

Mouse Models of Human Disease
OMIM ID Ref(s)
Achondroplasia; ACH 100800 J:70061


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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