Phenotypes associated with this allele

• Allele Symbol: Tnfrsf11a^tm1Imx
• Allele Name: targeted mutation 1, Immunex Research and Development Corporation
• Allele ID: MGI:1860238
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Tnfrsf11a^tm1Imx/Tnfrsf11a^tm1Imx	involves: 129	MGI:3850562
hm2	Tnfrsf11a^tm1Imx/Tnfrsf11a^tm1Imx	involves: 129 * C57BL/6	MGI:3850545

Genotype
MGI:3850562

hm1

• Allelic Composition: Tnfrsf11a^tm1Imx/Tnfrsf11a^tm1Imx
• Genetic Background: involves: 129

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

immune system

abnormal thymus epithelium morphology ( J:125864 )

• medullary thymic epithelial cells that present self antigen are not present in these mice

abnormal negative T cell selection ( J:125864 )

• when thymus is transplanted to nude mice, auto-reactive T cells are generated suggesting a defect in negative selection

hematopoietic system

abnormal thymus epithelium morphology ( J:125864 )

• medullary thymic epithelial cells that present self antigen are not present in these mice

abnormal negative T cell selection ( J:125864 )

• when thymus is transplanted to nude mice, auto-reactive T cells are generated suggesting a defect in negative selection

endocrine/exocrine glands

abnormal thymus epithelium morphology ( J:125864 )

• medullary thymic epithelial cells that present self antigen are not present in these mice

Genotype
MGI:3850545

hm2

• Allelic Composition: Tnfrsf11a^tm1Imx/Tnfrsf11a^tm1Imx
• Genetic Background: involves: 129 * C57BL/6

growth/size/body

failure of tooth eruption ( J:57899 )

• incisors and molars are not evident up to 80 days of age

tooth impaction ( J:57899 )

• teeth fail to erupt due to bone completely surrounding the incisors and cheek teeth

abnormal nasal mucosa morphology ( J:57899 )

• nasal associated mucosal tissue is small and hypocellular

decreased body size ( J:57899 )

• mice are runted with a smaller body size evident by weaning age

spleen hyperplasia ( J:57899 )

• spleen-to-body weight ratio is twice that of controls

craniofacial

failure of tooth eruption ( J:57899 )

• incisors and molars are not evident up to 80 days of age

tooth impaction ( J:57899 )

• teeth fail to erupt due to bone completely surrounding the incisors and cheek teeth

domed cranium ( J:57899 )

• domed skull is part of the osteopetrotic phenotype characteristic of these mice

• occurs due to shortening and ossification of bones at the base of the skull

abnormal nasal mucosa morphology ( J:57899 )

• nasal associated mucosal tissue is small and hypocellular

skeleton

abnormal osteoclast differentiation ( J:57899 )

• osteoclasts fail to form despite the presence of osteoclasts precursors in the bone marrow

failure of tooth eruption ( J:57899 )

• incisors and molars are not evident up to 80 days of age

tooth impaction ( J:57899 )

• teeth fail to erupt due to bone completely surrounding the incisors and cheek teeth

domed cranium ( J:57899 )

• domed skull is part of the osteopetrotic phenotype characteristic of these mice

• occurs due to shortening and ossification of bones at the base of the skull

decreased osteoclast cell number ( J:57899 )

• osteoclasts are absent in these mice

increased diameter of long bones ( J:57899 )

• long bones have an increased cross-sectional diameter

increased bone mineral density ( J:57899 )

• the axial skeleton and the base of the skull have higher bone density

decreased compact bone thickness ( J:57899 )

• cortical bone is thin and poorly mineralized

osteopetrosis ( J:57899 )

• mice are osteopetrotic with shortened long bones and mineralization within the bone marrow cavity

• other osteopetrotic features include wide, poorly organized growth plate, thin cortical bone, and abnormal mineralization of alveolar bone

hematopoietic system

abnormal osteoclast differentiation ( J:57899 )

• osteoclasts fail to form despite the presence of osteoclasts precursors in the bone marrow

spleen hyperplasia ( J:57899 )

• spleen-to-body weight ratio is twice that of controls

abnormal common myeloid progenitor cell morphology ( J:57899 )

• splenic numbers of CFU-GM, -GEMM, -E, and -M are all elevated with CFU-GEM and CFU-M elevated more than 10-fold

extramedullary hematopoiesis ( J:57899 )

• percentage of erythroid precursor cells is significantly increased in the spleen by more than 15-fold

decreased bone marrow cell number ( J:57899 )

• bone marrow cellularity is 10% of normal

increased granulocyte number ( J:57899 )

• granulocyte/neutrophil numbers are increased

increased neutrophil cell number ( J:57899 )

• granulocyte/neutrophil numbers are increased

decreased B cell number ( J:57899 )

• B cell numbers are reduced by half

decreased mature B cell number ( J:57899 )

• mature B cell numbers are reduced by 40%

decreased osteoclast cell number ( J:57899 )

• osteoclasts are absent in these mice

decreased spleen germinal center size ( J:57899 )

• is observed

limbs/digits/tail

short limbs ( J:57899 )

• shortened limbs are part of the osteopetrotic phenotype characteristic of these mice

respiratory system

abnormal nasal mucosa morphology ( J:57899 )

• nasal associated mucosal tissue is small and hypocellular

immune system

abnormal osteoclast differentiation ( J:57899 )

• osteoclasts fail to form despite the presence of osteoclasts precursors in the bone marrow

spleen hyperplasia ( J:57899 )

• spleen-to-body weight ratio is twice that of controls

increased granulocyte number ( J:57899 )

• granulocyte/neutrophil numbers are increased

increased neutrophil cell number ( J:57899 )

• granulocyte/neutrophil numbers are increased

decreased B cell number ( J:57899 )

• B cell numbers are reduced by half

decreased mature B cell number ( J:57899 )

• mature B cell numbers are reduced by 40%

decreased osteoclast cell number ( J:57899 )

• osteoclasts are absent in these mice

decreased spleen germinal center size ( J:57899 )

• is observed

decreased Peyer's patch number ( J:57899 )

• Peyer's patch numbers are consistently decreased

small Peyer's patches ( J:57899 )

• Peyer's patches are smaller and contain fewer B cells than controls

absent lymph nodes ( J:57899 )

• lymph nodes are absent in these mice

cellular

abnormal osteoclast differentiation ( J:57899 )

• osteoclasts fail to form despite the presence of osteoclasts precursors in the bone marrow