Phenotypes Associated with This Genotype

Genotype
MGI:5572807

• Allelic Composition: Bmp2^tm1.1Mis/Bmp2^tm1.2Mis; Tg(Col1a1-cre)1Bek/0
• Genetic Background: involves: 129S4/SvJaeSor * 129S7/SvEvBrd * CD-1

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

skeleton

absent deltoid tuberosity ( J:210409 )

short humerus ( J:210409 )

• at 2 weeks but not 2-4 months

abnormal vertebral column morphology ( J:210409 )

• enlarged intervertebral space in the vertebrae

small vertebrae ( J:210409 )

• slight at 2 weeks

• at 4 months

• in the lumbar vertebrae and hip region

vertebral fusion ( J:210409 )

• smaller unfused at 2 weeks

abnormal bone structure ( J:210409 )

• thinner bones at 2 weeks, progressive

impaired osteoblast differentiation ( J:210409 )

• reduced mesenchymal stem cell population and capacity to differentiate to mature osteoblasts

decreased osteoclast cell number ( J:210409 )

• decrease in osteoclasts covering bone surface or number of osteoclasts per unit of bone surface at 2 weeks

decreased bone mineral density ( J:210409 )

decreased bone volume ( J:210409 )

• in the tibia, femur and humerus

• however, cortical thickness is normal

decreased osteoblast cell number ( J:210409 )

• fewer mature cuboidal polarized osteoblasts from 5 days to 6 months

• decrease in the region of mature osteoblasts covering the bone surface and number of mature osteoblasts per bone surface at 8 weeks

abnormal trabecular bone morphology ( J:210409 )

• increase in rod-like quality of trabeculae

decreased trabecular bone volume ( J:210409 )

decreased trabecular bone thickness ( J:210409 )

decreased bone mineralization ( J:210409 )

• reduced bone mineralizing surface and mineral apposition rate in the bone marrow trabeculae and in the periosteum

decreased bone ossification ( J:210409 )

• decreased bone formation

fragile skeleton ( J:210409 )

• more brittle

cardiovascular system

abnormal vascular development ( J:210409 )

• decreased vascularization in the bone (diaphysis and metaphysis)

limbs/digits/tail

absent deltoid tuberosity ( J:210409 )

short humerus ( J:210409 )

• at 2 weeks but not 2-4 months

cellular

impaired osteoblast differentiation ( J:210409 )

• reduced mesenchymal stem cell population and capacity to differentiate to mature osteoblasts

immune system

decreased osteoclast cell number ( J:210409 )

• decrease in osteoclasts covering bone surface or number of osteoclasts per unit of bone surface at 2 weeks

hematopoietic system

decreased osteoclast cell number ( J:210409 )

• decrease in osteoclasts covering bone surface or number of osteoclasts per unit of bone surface at 2 weeks