Phenotypes Associated with This Genotype

Genotype
MGI:7277815

• Allelic Composition: Prmt5^{tm2c(EUCOMM)Wtsi}/Prmt5^{tm2c(EUCOMM)Wtsi}; Tg(Col2a1-cre)#Amc/0
• Genetic Background: involves: C57BL/6N

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

mortality/aging

preweaning lethality, complete penetrance ( J:283043 )

• most die before P10 with none surviving to P16

growth/size/body

decreased body size ( J:283043 )

• of 4 mice that survived to P10, 2 are much smaller than littermate controls

skeleton

abnormal intervertebral disk morphology ( J:283043 )

• at P1 an increase in midline clefts in the endplate are seen

• at P10, chondrocytes in the endplate appear larger and the surrounding matrix is more intensely stained with Alcian Blue

• the inner and outer layers of the annulus fibrosus stain more intensely with Alcian Blue

abnormal intervertebral disk development ( J:283043 )

• expression analysis indicates abnormal differentiation of cartilaginous tissues

scoliosis ( J:283043 )

• thoracic scoliosis at P10 with an average Cobb angle of 30 +/- 4 degrees

abnormal vertebrae morphology ( J:283043 )

• some mild wedging of the vertebra at the apex of the curvature

• severe decrease in trabecular bone formation in the T6 vertebra

• delay in the formation of the endochondral ossification in the vertebral bodies at P1 and an increase in midline clefts in the vertebral growth plate

• at P10, there is an increased number of cell layers in the hypertrophic zone of the vertebral growth plate and a minor increase in the number of cells or cell layers in the proliferative/prehypertrophic zone of the growth plate

abnormal vertebral body development ( J:283043 )

• expression analysis indicates abnormal differentiation of cartilaginous tissues in the growth plate of the spine

small vertebrae ( J:283043 )

• overall smaller vertebrae

decreased trabecular bone volume ( J:283043 )

• in the T6 vertebra

abnormal chondrocyte morphology ( J:283043 )

• general disorganization of chondrocytes in the vertebrae

• at P10, chondrocytes in the intervertebral disk endplate appear larger and the surrounding matrix is more intensely stained with Alcian Blue

decreased bone mineralization ( J:283043 )

• lateral X-rays show reduced signal attenuation in the distal ribs indicative of reduced mineralized bone

abnormal endochondral bone ossification ( J:283043 )

• impaired in the thoracic vertebral bodies at P1 and P10

delayed endochondral bone ossification ( J:283043 )

• delay in the formation of the endochondral ossification in the vertebral bodies at P1

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic scoliosis		DOID:0060250		J:283043