Phenotypes Associated with This Genotype

Genotype
MGI:7281134

• Allelic Composition: Mbtps1^tm1Jdh/Mbtps1^tm1Jdh; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * CD-1

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

cellular

increased chondrocyte apoptosis ( J:258274 )

• at P7 in the epiphyseal cartilage

growth/size/body

decreased body size ( J:258274 )

• dwarfed mice with fragile bones

hematopoietic system

abnormal bone marrow cell morphology/development ( J:258274 )

• decrease in the ability of bone marrow stem cells to form colony-forming unit-fibroblasts

• dramatic decrease in the number of mesenchymal-derived skeletal stem cells

skeleton

increased chondrocyte apoptosis ( J:258274 )

• at P7 in the epiphyseal cartilage

abnormal appendicular skeleton morphology ( J:258274 )

• smaller appendicular elements

abnormal axial skeleton morphology ( J:258274 )

• smaller axial elements

scoliosis ( J:258274 )

• varying degrees of scoliosis that can be severe and is seen as early as 7-10 days of age

decreased bone mineral density ( J:258274 )

• severe at P1 and P7

decreased volumetric bone mineral density ( J:258274 )

• in trabecular and cortical bone at P7

decreased compact bone volume ( J:258274 )

• decreased bone volume fraction at P7

decreased trabecular bone volume ( J:258274 )

• decrease in bone volume fraction

decreased compact bone thickness ( J:258274 )

• mid-diaphyseal cortical bone is smaller in width with thinner cortical bone

decreased osteoblast cell number ( J:258274 )

• decreased on the endosteal surface of the cortical bone

abnormal skeleton development ( J:258274 )

• at E15.5 and E16.5 in endochondral bone only cartilage is seen where the primary ossification center would normally be with no sign of vascular invasion

• dramatic decrease in the number of mesenchymal-derived skeletal stem cells in the bone marrow

decreased width of hypertrophic chondrocyte zone ( J:258274 )

• smaller

abnormal bone ossification ( J:258274 )

• osteogenic capacity of bone marrow stem cells is absent in vitro

decreased bone mineralization ( J:258274 )

• decrease in bone mineral apposition rate and bone formation rate/bone surface

delayed endochondral bone ossification ( J:258274 )

• at E15.5 and E16.5 only cartilage is seen where the primary ossification center would normally be with no sign of vascular invasion

• at P7 and P10, the secondary ossification center in the epiphyseal cartilage is absent

fragile skeleton ( J:258274 )

• drastic reduction in pMOI (a measure of resistance to torsional force)

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
idiopathic scoliosis		DOID:0060250		J:258274