Phenotypes Associated with This Genotype

Genotype
MGI:7266813

• Allelic Composition: Adgrg6^tm1Arte/Adgrg6^tm1Arte; Tg(Col2a1-cre)#Amc/0
• Genetic Background: involves: 129S5/SvEvBrd

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

cellular

increased chondrocyte apoptosis ( J:224002 )

• increase in apoptosis in chondrocytes in the costal cartilages of the ribs and vertebrae

• in the intervertebral region increased apoptosis is seen in all chondrocytes including within the hypertrophic zone, annulus fibrosis and within the nucleus pulposus

skeleton

skeleton phenotype ( J:224002 , J:313834 )

N • no changes in trabecular bone of the vertebrae and no overt changes in the craniofacial or appendicular skeleton (J:224002)

N • no apparent defects in the size or patterning of the vertebrae, growth plates, or intervertebral disk tissues at P20 (J:313834)

increased chondrocyte apoptosis ( J:224002 )

• increase in apoptosis in chondrocytes in the costal cartilages of the ribs and vertebrae

• in the intervertebral region increased apoptosis is seen in all chondrocytes including within the hypertrophic zone, annulus fibrosis and within the nucleus pulposus

abnormal sternum morphology ( J:224002 )

• dorsal-ward pectus excavatum-like deflections in the sternum in some mice

abnormal intervertebral disk morphology ( J:224002 , J:313834 )

• at P0 and P20 acellular clefts are seen at the midline in the region of the annulus fibrosis (J:224002)

• wedging of intervertebral disks is seen close to the apex of the curvature (J:313834)

• more vertical alignment of the annulus fibrosis lamellae along the convex side with flatter lamellae and an elongated inner annulus fibrosus at the concave side (J:313834)

• at P120 but not at P20 endplate and growth plate tissues appeared thinner (J:313834)

• however, disks proximal or distal to the curvature appear normal (J:313834)

abnormal nucleus pulposus morphology ( J:313834 )

• shifted towards the convexity of the curve and this is more pronounced in older scoliotic mice

• large vacuolated cells are shifted towards the the convex side and smaller non-vacuolated cells are in the middle and concave side, unlike in controls where these cells are evenly distributed

scoliosis ( J:224002 , J:313834 )

• thoracic scoliosis in a significant fraction of mice (J:224002)

• postnatal onset of spine curvature beginning at P20 (J:313834)

• scoliosis is progressive in some mice (J:313834)

• scoliosis is seen in 60% of mice at P20, P40 and P120 (J:313834)

• apex of curvature is centered at thoracic vertebrae (T)8 and T9 with a Cobb angle ranging from 11 to 46 degrees (J:313834)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic scoliosis		DOID:0060250		J:224002