Phenotypes associated with this allele

• Allele Symbol: Sbno2^tm1.1Aki
• Allele Name: targeted mutation 1.1, Shizuo Akira
• Allele ID: MGI:5551983
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Sbno2^tm1.1Aki/Sbno2^tm1.1Aki	involves: 129 * C57BL/6	MGI:5551987

Genotype
MGI:5551987

hm1

• Allelic Composition: Sbno2^tm1.1Aki/Sbno2^tm1.1Aki
• Genetic Background: involves: 129 * C57BL/6

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

Osteopetrotic phenotype of 10 week old Sbno2^tm1.1Aki/Sbno2^tm1.1Aki mice

mortality/aging

preweaning lethality, incomplete penetrance ( J:202853 )

♂ • fewer than expected male mice are produced

♂ • however, female mice are born in expected Mendelian ratio

skeleton

abnormal osteoclast morphology ( J:202853 )

• reduced osteoclast surface to bone surface

• decreased nuclei to osteoclast ratio

• ruffled border formation on osteoclast indicating osteoclast fusion is reduced

• however, the ratio of osteoclasts to bone surface is normal

abnormal osteoclast physiology ( J:202853 )

• increased eroded surface to bone surface ratio

increased bone volume ( J:202853 )

• at 10 weeks

abnormal bone trabecula morphology ( J:202853 )

• decreased spacing at 10 weeks

increased bone trabecula number ( J:202853 )

• at 10 weeks

increased trabecular bone thickness ( J:202853 )

• at 10 weeks in the femur but not the tibia

increased bone mass ( J:202853 )

osteopetrosis ( J:202853 )

• low-turnover osteopetrosis

abnormal skeleton development ( J:202853 )

• impaired osteoclast formation and fusion

• however, osteoclast differentiation markers are normal

impaired osteoblast differentiation ( J:202853 )

• impaired osteoblastogenesis

abnormal bone ossification ( J:202853 )

• slightly decreased bone formation rate

abnormal bone mineralization ( J:202853 )

• slightly decreased mineral apposition rate

hematopoietic system

hematopoietic system phenotype ( J:202853 )

N • lymphoid and myeloid cells in the bone marrow are normal

abnormal osteoclast morphology ( J:202853 )

• reduced osteoclast surface to bone surface

• decreased nuclei to osteoclast ratio

• ruffled border formation on osteoclast indicating osteoclast fusion is reduced

• however, the ratio of osteoclasts to bone surface is normal

abnormal osteoclast physiology ( J:202853 )

• increased eroded surface to bone surface ratio

growth/size/body

decreased body weight ( J:202853 )

• slightly at 10 weeks

cellular

impaired osteoblast differentiation ( J:202853 )

• impaired osteoblastogenesis

immune system

immune system phenotype ( J:202853 )

N • in vivo and in vitro cytokine production is normal

N • mice exhibit normal TLR signaling and response to S. aureus infection

abnormal osteoclast morphology ( J:202853 )

• reduced osteoclast surface to bone surface

• decreased nuclei to osteoclast ratio

• ruffled border formation on osteoclast indicating osteoclast fusion is reduced

• however, the ratio of osteoclasts to bone surface is normal

abnormal osteoclast physiology ( J:202853 )

• increased eroded surface to bone surface ratio

muscle

muscle phenotype ( J:202853 )

N • femoral muscles are normal