Phenotypes Associated with This Genotype

Genotype
MGI:5578156

• Allelic Composition: Idh2^tm1Jwpk/Idh2^tm1Jwpk
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

neoplasm

abnormal tumor pathology ( J:210036 )

♂ • tumor tissue derived from B16F10 melanoma cells exhibit higher levels of hydrogen peroxide, protein oxidation and lipid oxidation compared with tumor tissue in wild-type mice

abnormal tumor vascularization ( J:210036 )

♂ • reduced expression of angiogenesis markers in tumor tissue derived from B16F10 melanoma cells

decreased tumor growth/size ( J:210036 )

♂ • 5.8-fold decreased in tumor volume and 7.2-fold decrease in tumor mass in male mice inoculated with B16F10 melanoma cells

♂ • almost completely abrogated tumor growth in irradiated male mice inoculated with B16F10 melanoma cells

skeleton

increased osteoclast cell number ( J:272241 )

• osteoclast numbers increase dramatically with age

abnormal vertebral column morphology ( J:272241 )

• spine deformities are seen at 47 weeks of age but not at 27 weeks

• abnormalities are seen in the lateral plane in the cervical and thoracic regions

abnormal spine curvature ( J:272241 )

• curvature increases after 27 weeks of age

• at 47 weeks of age the curvature through the cervical and thoracic spine is nearly 90 degrees

kyphosis ( J:272241 )

• in older mice

abnormal vertebral body morphology ( J:272241 )

• severe changes in spongy bone and membrane bone at 47 weeks of age but not at 27 weeks

• ultimately the boundary between the cortical and spongy bone becomes unclear and endplate structure is disrupted

decreased bone mineral density ( J:272241 )

decreased osteoblast cell number ( J:272241 )

• reduced with age

abnormal trabecular bone morphology ( J:272241 )

decreased trabecular bone volume ( J:272241 )

• trabecular bone volume to tissue volume ratio is significantly reduced

decreased bone trabecula number ( J:272241 )

increased bone trabecular spacing ( J:272241 )

decreased trabecular bone thickness ( J:272241 )

cellular

oxidative stress ( J:272241 )

• elevated ROS levels in tissues

immune system

increased osteoclast cell number ( J:272241 )

• osteoclast numbers increase dramatically with age

hematopoietic system

increased osteoclast cell number ( J:272241 )

• osteoclast numbers increase dramatically with age

cardiovascular system

abnormal tumor vascularization ( J:210036 )

♂ • reduced expression of angiogenesis markers in tumor tissue derived from B16F10 melanoma cells

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
bone remodeling disease		DOID:0080005		J:272241