Phenotypes Associated with This Genotype

Genotype
MGI:6256787

• Allelic Composition: Fgfr3^tm1Dor/Fgfr3^tm1Dor
• Genetic Background: C3.129S6(B6)-Fgfr3^tm1Dor

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

skeleton

abnormal intervertebral disk morphology ( J:244595 )

• intervertebral disk width is decreased on the convex side of apical vertebrae and mice exhibit intervertebral disk compression

• treatment with PTHrP-1-34 inhibits intervertebral disk compression

kyphoscoliosis ( J:244595 )

• mice exhibit a greater mean Cobb angle of thoracic vertebrae beyond 1 month of age that stabilizes around 4 months of age when mice reach skeletal maturity indicating spine curvature

• mice show a sigmoid curvature at 2 months which increases in severity to 4 months indicating progressive scoliosis

• the apical vertebrae shows the maximal lateral displacement and rotation

• mice show a significant rotation of T8 through T12 in the presence of a relatively small lateral displacement of the spine

• continuous release of the bone anabolic peptide parathyroid hormone related protein (PTHrP-1-34) form pellets implanted adjacent to the thoracic spine at 1 month of age inhibits progression of scoliosis, reducing curvature and axial rotation, but does not alter bone volume or the development of kyphosis

abnormal vertebrae morphology ( J:244595 )

• vertebrae show a reduction in trabecular bone

• L5 vertebrae shows a reduction in bone volume/total volume

• apical vertebrae shows reduced bone volume/total volume ratio in the convex side but normal concave side

• overall increase in length of vertebrae and a reduction in height on the concave side of intervertebral disks

decreased bone mineral density ( J:244595 )

• mice develop osteopenia

• treatment with PTHrP-1-34 has no effect on osteopenia development

decreased bone volume ( J:244595 )

• L5 vertebrae shows a reduction in bone volume/total volume ratio

• apical vertebrae shows reduced bone volume/total volume ratio in the convex side but normal concave side

abnormal trabecular bone morphology ( J:244595 )

• vertebrae show a reduction in trabecular bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scoliosis		DOID:0060249		J:244595