Phenotypes Associated with This Genotype

Genotype
MGI:7280953

• Allelic Composition: Tsc1^tm1Djk/Tsc1^tm1Djk; Tg(Col2a1-cre/ERT)KA3Smac/0
• Genetic Background: involves: 129S4/SvJae * FVB/N

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

growth/size/body

decreased body weight ( J:273713 )

• at P21 and P60

abnormal chest morphology ( J:273713 )

• flat chest

decreased body length ( J:273713 )

• at P21 and P60

skeleton

abnormal costal cartilage morphology ( J:273713 )

• enlarged

abnormal rib morphology ( J:273713 )

• immature bony structure is seen at P60

abnormal intervertebral disk morphology ( J:273713 )

• classic structure is absent at 4 and 8 weeks of age

• at 1 week of age the primary ossification center is abnormal

abnormal annulus fibrosus morphology ( J:273713 )

• absent at 4 and 8 weeks of age

abnormal intervertebral disk development ( J:273713 )

• chrondrogenesis is elevated in the growth plate but hypertrophic chondrocytes are rare

absent nucleus pulposus ( J:273713 )

• at 4 and 8 weeks of age

small intervertebral disk ( J:273713 )

• disk height is reduced at 4 and 8 weeks of age

kyphosis ( J:273713 )

small vertebrae ( J:273713 )

• smaller and shorter

spinal stenosis ( J:273713 )

• loss of intervertebral space and congenital spinal canal stenosis

• treatment with rapamycin by daily gavage for 4 weeks rescues the spinal deformity

abnormal compact bone thickness ( J:273713 )

• micro-CT analysis suggests enhanced thickness

abnormal trabecular bone morphology ( J:273713 )

• micro-CT analysis suggest enhanced density of the trabecular bone

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
spinal disease		DOID:0060564		J:273713