Phenotypes Associated with This Genotype

Genotype
MGI:5471477

• Allelic Composition: Jdp2^tm1Aki/Jdp2^tm1Aki
• Genetic Background: Not Specified

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

skeleton

short femur ( J:191061 )

• slightly shortened

abnormal bone structure ( J:191061 )

abnormal osteoclast morphology ( J:191061 )

• reduced osteoclast surface/bone surface ratio

abnormal osteoclast differentiation ( J:191061 )

• RANKL and Trem2 induced in vitro osteoclastogenesis is completely abrogated

increased bone mineral density ( J:191061 )

abnormal trabecular bone morphology ( J:191061 )

increased trabecular bone volume ( J:191061 )

• in femora and proximal tibia

increased bone trabecula number ( J:191061 )

• in femora and proximal tibia

osteopetrosis ( J:191061 )

• femora display osteopetrosis

immune system

abnormal osteoclast morphology ( J:191061 )

• reduced osteoclast surface/bone surface ratio

abnormal osteoclast differentiation ( J:191061 )

• RANKL and Trem2 induced in vitro osteoclastogenesis is completely abrogated

abnormal neutrophil physiology ( J:191061 )

• impaired apoptosis

• 50% reduction of neutrophil extracellular trap formation in response to either Staphylococcus aureus or Candida albicans infection

• 50% reduction in superoxide production in response to zymosan and curdlan

• extracellular bacterial killing is significantly decreased

increased susceptibility to bacterial infection ( J:191061 )

• susceptibility to Staphylococcus aureus infection is considerably increased

increased susceptibility to fungal infection ( J:191061 )

• susceptibility to Candida albicans infection is slightly increased

limbs/digits/tail

short femur ( J:191061 )

• slightly shortened

hematopoietic system

abnormal osteoclast morphology ( J:191061 )

• reduced osteoclast surface/bone surface ratio

abnormal osteoclast differentiation ( J:191061 )

• RANKL and Trem2 induced in vitro osteoclastogenesis is completely abrogated

abnormal neutrophil physiology ( J:191061 )

• impaired apoptosis

• 50% reduction of neutrophil extracellular trap formation in response to either Staphylococcus aureus or Candida albicans infection

• 50% reduction in superoxide production in response to zymosan and curdlan

• extracellular bacterial killing is significantly decreased

cellular

abnormal osteoclast differentiation ( J:191061 )

• RANKL and Trem2 induced in vitro osteoclastogenesis is completely abrogated