Phenotypes Associated with This Genotype

Genotype
MGI:3852529

• Allelic Composition: Nfkb1^tm1Brv/Nfkb1^tm1Brv; Nfkb2^tm1Brv/Nfkb2^tm1Brv
• Genetic Background: involves: 129S1/Sv * C57BL/6

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

skeleton

abnormal osteoclast differentiation ( J:44112 )

• fewer osteoclasts form while more bone-residing macrophages are detected compared to in wild-type mice

tooth impaction ( J:44112 )

• tooth eruption is prevented by a superficial bone plate on the mandible and maxilla and impacted teeth are poorly invested in the surrounding alveolar bone unlike in wild-type mice

• however, mice reconstituted with wild-type marrow exhibit only delayed tooth eruption

decreased osteoclast cell number ( J:44112 )

abnormal long bone morphology ( J:44112 )

• persistent cartilaginous and osseous trabecular are found throughout the epiphysis, metaphysis and diaphysis unlike in wild-type mice

• endochondral bones exhibit thin, hypocellular growth plates and wide, cavernous marrow spaces unlike in wild-type mice

abnormal long bone epiphyseal plate morphology ( J:44112 )

• the proliferating and hypertrophic zones are arranged in irregular clusters unlike the discrete columns observed in wild-type mice

abnormal bone marrow cavity morphology ( J:44112 )

• the bone marrow cavity is filled with unresorbed primary spongiosa that reduces the space 80% compared to in wild-type mice

osteopetrosis ( J:44112 )

immune system

abnormal osteoclast differentiation ( J:44112 )

• fewer osteoclasts form while more bone-residing macrophages are detected compared to in wild-type mice

decreased osteoclast cell number ( J:44112 )

increased macrophage cell number ( J:44112 )

• the number of bone-residing macrophages is increased compared to in wild-type mice

• the number of macrophages in the spleen, blood, and bone marrow is increased compared to in wild-type mice

abnormal cytokine secretion ( J:44112 )

• LPS and IFN-gamma-stimulated macrophages exhibit reduced IL6 and GM-CSF (granulocyte monocyte colony stimulating factor) production compared to similarly treated wild-type cell

decreased interleukin-6 secretion ( J:44112 )

• LPS and IFN-gamma-stimulated macrophages exhibit reduced IL6 production compared to similarly treated wild-type cell

growth/size/body

tooth impaction ( J:44112 )

• tooth eruption is prevented by a superficial bone plate on the mandible and maxilla and impacted teeth are poorly invested in the surrounding alveolar bone unlike in wild-type mice

• however, mice reconstituted with wild-type marrow exhibit only delayed tooth eruption

postnatal growth retardation ( J:44112 )

• after P10

craniofacial

abnormal craniofacial morphology ( J:44112 )

• after P10

tooth impaction ( J:44112 )

• tooth eruption is prevented by a superficial bone plate on the mandible and maxilla and impacted teeth are poorly invested in the surrounding alveolar bone unlike in wild-type mice

• however, mice reconstituted with wild-type marrow exhibit only delayed tooth eruption

hematopoietic system

abnormal osteoclast differentiation ( J:44112 )

• fewer osteoclasts form while more bone-residing macrophages are detected compared to in wild-type mice

decreased osteoclast cell number ( J:44112 )

increased macrophage cell number ( J:44112 )

• the number of bone-residing macrophages is increased compared to in wild-type mice

• the number of macrophages in the spleen, blood, and bone marrow is increased compared to in wild-type mice

cellular

abnormal osteoclast differentiation ( J:44112 )

• fewer osteoclasts form while more bone-residing macrophages are detected compared to in wild-type mice