Phenotypes associated with this allele

• Allele Symbol: Tnfrsf11a^del8
• Allele Name: deletion 8
• Allele ID: MGI:3664109
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tnfrsf11a^del8/Tnfrsf11a^del8	involves: 129	MGI:3665135

Genotype
MGI:3665135

hm1

• Allelic Composition: Tnfrsf11a^del8/Tnfrsf11a^del8
• Genetic Background: involves: 129

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

mortality/aging

premature death ( J:111512 )

• mutants die between 3 and 5 weeks of age; three animals were put on a soft food diet and survived 2-4 weeks longer

growth/size/body

failure of tooth eruption ( J:111512 )

• identified at P7

short snout ( J:111512 )

• at 2-3 weeks of age, craniofacial defects become apparent including a shortened or 'compressed' snout

decreased body size ( J:111512 )

• mutants lag behind littermates in growth in the second and third weeks after birth

enlarged liver ( J:111512 )

• mice display splenomegaly due to extramedullary hematopoiesis

enlarged spleen ( J:111512 )

• due to extramedullary hematopoiesis

skeleton

failure of tooth eruption ( J:111512 )

• identified at P7

decreased osteoclast cell number ( J:111512 )

• multinucleate osteoclasts are undetectable in bone lacunae and do not form when mutant splenocytes are cultured

• in co-culture, mutant osteoblasts support osteoclast formation from wild-type splenocytes, but mutant splenocytes cannot form osteoclasts in presence of wild-type osteoblasts

abnormal long bone hypertrophic chondrocyte zone ( J:111512 )

• columns of hypertrophic chondrocytes are lengthened in epiphysis of long bones

increased long bone epiphyseal plate size ( J:111512 )

• plates are enlarged in long bones

kyphosis ( J:111512 )

• progressive kyphosis is observed

increased bone mineral density ( J:111512 )

• a diffuse increase in BMD is observed

abnormal trabecular bone morphology ( J:111512 )

• density and thickness of bone trabeculae are increased

osteopetrosis ( J:111512 )

• homozygotes appear normal at birth but show severe osteopetrosis by P7

craniofacial

failure of tooth eruption ( J:111512 )

• identified at P7

short snout ( J:111512 )

• at 2-3 weeks of age, craniofacial defects become apparent including a shortened or 'compressed' snout

immune system

enlarged spleen ( J:111512 )

• due to extramedullary hematopoiesis

decreased osteoclast cell number ( J:111512 )

• multinucleate osteoclasts are undetectable in bone lacunae and do not form when mutant splenocytes are cultured

• in co-culture, mutant osteoblasts support osteoclast formation from wild-type splenocytes, but mutant splenocytes cannot form osteoclasts in presence of wild-type osteoblasts

abnormal mesenteric lymph node morphology ( J:111512 )

• mice lack mesenteric lymph nodes, but thymus is intact and intestinal Peyer's patches have normal distribution

hematopoietic system

abnormal hematopoietic system morphology/development ( J:111512 )

enlarged spleen ( J:111512 )

• due to extramedullary hematopoiesis

extramedullary hematopoiesis ( J:111512 )

anemia ( J:111512 )

• peripheral blood samples indicate osteopetrotic mice are anemic (hematocrit = 37.6 vs 44.2 in normal littermates)

decreased osteoclast cell number ( J:111512 )

• multinucleate osteoclasts are undetectable in bone lacunae and do not form when mutant splenocytes are cultured

• in co-culture, mutant osteoblasts support osteoclast formation from wild-type splenocytes, but mutant splenocytes cannot form osteoclasts in presence of wild-type osteoblasts

liver/biliary system

enlarged liver ( J:111512 )

• mice display splenomegaly due to extramedullary hematopoiesis