Phenotypes Associated with This Genotype

Genotype
MGI:7279112

• Allelic Composition: Mapk8^tm1Rjd/Mapk8^tm1Rjd; Mapk9^tm1Flv/Mapk9^tm1Flv; Tg(Col2a1-cre)1Bhr/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * C57BL/6J * SJL

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

mortality/aging

premature death ( J:277201 )

• need to be euthanized at approximately 10 weeks of age due to urinary retention and paraphimosis

renal/urinary system

paraphimosis ( J:277201 )

ischuria ( J:277201 )

• urinary retention

skeleton

abnormal knee joint morphology ( J:277201 )

• the articular cartilage thickness, the width of the joint at the level of the femoral condyles, and the height of the tibial plateau are decreased

abnormal sternebra morphology ( J:277201 )

• enlargement of the growth plate

sternebra fusion ( J:277201 )

• at 10 weeks of age

abnormal sternocostal joint morphology ( J:277201 )

• separation at the joints is not well defined at 10 weeks of age

abnormal intervertebral disk morphology ( J:277201 )

• ectopic ossification localized in the caudal thoracic and thoracic spine at 4 weeks of age

• the typical lamellar structure of the annulus fibrosus is completely absent at 4 weeks of age

• at 10 weeks of age in the proximal thoracic spine (approximately cranial to T9) disks are replaced by a proteoglycan-rich cartilaginous tissue that extends beyond the disk and appears to connect the distal and proximal growth plates of adjacent vertebral bodies

• at E15.5 and E17.5, the annulus fibrosus is populated by larger, chondrocyte-like cells with altered alignment of the collagen fibers in the laminae

• increased annulus fibrosus width for both dorsal and ventral regions at E17.5

abnormal nucleus pulposus morphology ( J:277201 )

• reduced in size at 4 weeks of age

calcified intervertebral disk ( J:277201 )

• seen at P11

• at 10 weeks of age most of the area of the disks is completely replaced with bone and cartilage in the lumbar and caudal thoracic spine

scoliosis ( J:277201 )

• seen at 4 weeks of age with Cobb angles ranging from 40 to 92 degrees

abnormal vertebrae morphology ( J:277201 )

• ectopic ossification in multiple structures of the vertebrae including the transverse and spinous processes

abnormal vertebral epiphyseal plate morphology ( J:277201 )

• decreased length at E17.5

vertebral fusion ( J:277201 )

• fused vertebrae with no space where the intervertebral disks should be

• fusions in the transverse and spinous processes are seen at P11 with the most advanced lesions seen in the lumbar spine

fusion of vertebral arches ( J:277201 )

• seen at E17.5 along with abnormally shaped primary ossification centers

fusion of vertebral bodies ( J:277201 )

• fusions of bodies and posterior elements are detected in the lumbar and thoracic spine

growth/size/body

decreased body size ( J:277201 )

distended abdomen ( J:277201 )

• at weaning

behavior/neurological

abnormal gait ( J:277201 )

• at weaning

limbs/digits/tail

abnormal knee joint morphology ( J:277201 )

• the articular cartilage thickness, the width of the joint at the level of the femoral condyles, and the height of the tibial plateau are decreased

abnormal tail position or orientation ( J:277201 )

• upward tail orientation

reproductive system

paraphimosis ( J:277201 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
scoliosis		DOID:0060249		J:277201