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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Sh3bp2tm1Bjro
targeted mutation 1, Bjorn R Olsen
MGI:3698401
Summary 6 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro involves: 129S4/SvJae * BALB/cJ * C57BL/6J MGI:3699094
ht2
Sh3bp2tm1Bjro/Sh3bp2+ involves: 129S4/SvJae * BALB/cJ * C57BL/6J MGI:3699095
cn3
Nfatc1tm3Glm/Nfatc1tm3Glm
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Tg(Mx1-cre)1Cgn/0
involves: 129S4/SvJae * C57BL/6 * CBA MGI:3831754
cx4
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Tnftm1Gkl/Tnftm1Gkl
involves: 129S/SvEv * 129S4/SvJae * BALB/cJ * C57BL/6J MGI:3699099
cx5
Rag1tm1Mom/Rag1tm1Mom
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
involves: 129S4/SvJae * 129S7/SvEvBrd * BALB/cJ * C57BL/6J MGI:3699096
cx6
Csf1op/Csf1op
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
involves: 129S4/SvJae * BALB/cJ * C57BL/6J MGI:3699098


Genotype
MGI:3699094
hm1
Allelic
Composition
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Genetic
Background
involves: 129S4/SvJae * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3bp2tm1Bjro mutation (0 available); any Sh3bp2 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• impaired survival with age with only about 28% of homozygotes surviving to 30 weeks of age (J:117880)
• impaired survival with age with only about 28% of homozygotes surviving to 30 weeks of age (J:117880)

skeleton
• reduced bone volume is seen at 10 weeks of age (J:117880)
• reduced bone volume is seen at 10 weeks of age (J:117880)
• reduced cortical bone thickness is seen at 10 weeks of age (J:117880)
• jaws display increased numbers of osteoclasts at 10 weeks of age (J:117880)
• reduced cortical bone thickness is seen at 10 weeks of age (J:117880)
• jaws display increased numbers of osteoclasts at 10 weeks of age (J:117880)
• loss of bone around teeth is seen at 10 weeks of age (J:117880)
• loss of bone around teeth is seen at 10 weeks of age (J:117880)
• bone loss is detected in the long bones (J:117880)
• bone loss is detected in the long bones (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• decreased bone mineral density in the long bones at 10 weeks of age (J:117880)
• decreased bone mineral density in the long bones at 10 weeks of age (J:117880)
• reduced trabecular bone volume, trabecular number, and to a lesser extent trabecular thickness are seen in long bones (J:117880)
• reduced trabecular bone volume, trabecular number, and to a lesser extent trabecular thickness are seen in long bones (J:117880)
• pitting of the cortical surface is seen particularly at the distal ends of limb bones (J:117880)
• pitting of the cortical surface is seen particularly at the distal ends of limb bones (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoblasts (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoblasts (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• in some mice infiltrates fill the synovial space of large joints and penetrate through the articular cartilage and underlying bone into the bone marrow (J:117880)
• in some mice infiltrates fill the synovial space of large joints and penetrate through the articular cartilage and underlying bone into the bone marrow (J:117880)
• inflammatory lesions in the cortical regions of the long bones, maxilla, palate, and mandible (J:117880)
• cystic lesions are seen in the bones (J:117880)
• inflammatory lesions in the cortical regions of the long bones, maxilla, palate, and mandible (J:117880)
• cystic lesions are seen in the bones (J:117880)

immune system
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• increase in the proportion of B cells in the lymph nodes, bone marrow, and spleen (J:117880)
• increase in the proportion of B cells in the lymph nodes, bone marrow, and spleen (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• peritoneal macrophages from 10 week old mice display an increase in the proportion oc cells expressing TNF (J:117880)
• peritoneal macrophages from 10 week old mice display an increase in the proportion oc cells expressing TNF (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• serum levels of TNF are elevated to between 200 to 700 pg/ml while levels in wild-type and heterozygous mice are undetectable (J:117880)
• serum levels of TNF are elevated to between 200 to 700 pg/ml while levels in wild-type and heterozygous mice are undetectable (J:117880)
• increase in the size of the red pulp region (J:117880)
• increase in the size of the red pulp region (J:117880)
• enlarged with increase in the size of medullary regions (J:117880)
• enlarged with increase in the size of medullary regions (J:117880)
• swelling of the facial soft tissue resulting from inflammatory lesions (J:117880)
• infiltrates are macrophage rich and contain tartrate-resistant acidic phosphatase positive cells (J:117880)
• swelling of the facial soft tissue resulting from inflammatory lesions (J:117880)
• infiltrates are macrophage rich and contain tartrate-resistant acidic phosphatase positive cells (J:117880)
• mice develop mild gastritis at 2 weeks of age (J:117880)
• mice develop mild gastritis at 2 weeks of age (J:117880)
• spinal inflammation is observed at 7 weeks of age (J:117880)
• spinal inflammation is observed at 7 weeks of age (J:117880)
• develop swollen eyelids resulting from inflammatory lesions starting around 6 weeks of age and this persists in mice until at least 30 weeks of age (J:117880)
• develop swollen eyelids resulting from inflammatory lesions starting around 6 weeks of age and this persists in mice until at least 30 weeks of age (J:117880)
• in some mice infiltrates fill the synovial space of large joints and penetrate through the articular cartilage and underlying bone into the bone marrow (J:117880)
• in some mice infiltrates fill the synovial space of large joints and penetrate through the articular cartilage and underlying bone into the bone marrow (J:117880)
• inflammation of the liver, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe liver inflammation (J:117880)
• inflammation of the liver, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe liver inflammation (J:117880)
• inflammation of the muscle and soft tissue associated with the craniofacial and long bones (J:117880)
• inflammation of the muscle and soft tissue associated with the craniofacial and long bones (J:117880)
• inflammatory lesions in the cortical regions of the long bones, maxilla, palate, and mandible (J:117880)
• cystic lesions are seen in the bones (J:117880)
• inflammatory lesions in the cortical regions of the long bones, maxilla, palate, and mandible (J:117880)
• cystic lesions are seen in the bones (J:117880)
• inflammation of the lung, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe lung inflammation (J:117880)
• inflammation of the lung, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe lung inflammation (J:117880)

homeostasis/metabolism
• serum levels of TNF are elevated to between 200 to 700 pg/ml while levels in wild-type and heterozygous mice are undetectable (J:117880)
• serum levels of TNF are elevated to between 200 to 700 pg/ml while levels in wild-type and heterozygous mice are undetectable (J:117880)
• elevated serum levels of tartrate-resistant acidic phosphatase (J:117880)
• elevated serum levels of tartrate-resistant acidic phosphatase (J:117880)

vision/eye
• develop swollen eyelids resulting from inflammatory lesions starting around 6 weeks of age and this persists in mice until at least 30 weeks of age (J:117880)
• develop swollen eyelids resulting from inflammatory lesions starting around 6 weeks of age and this persists in mice until at least 30 weeks of age (J:117880)

liver/biliary system
• inflammation of the liver, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe liver inflammation (J:117880)
• inflammation of the liver, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe liver inflammation (J:117880)

muscle
• inflammation of the muscle and soft tissue associated with the craniofacial and long bones (J:117880)
• inflammation of the muscle and soft tissue associated with the craniofacial and long bones (J:117880)

digestive/alimentary system
• mice develop mild gastritis at 2 weeks of age (J:117880)
• mice develop mild gastritis at 2 weeks of age (J:117880)

hematopoietic system
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• increase in the proportion of B cells in the lymph nodes, bone marrow, and spleen (J:117880)
• increase in the proportion of B cells in the lymph nodes, bone marrow, and spleen (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in the size of the red pulp region (J:117880)
• increase in the size of the red pulp region (J:117880)
• peritoneal macrophages from 10 week old mice display an increase in the proportion oc cells expressing TNF (J:117880)
• peritoneal macrophages from 10 week old mice display an increase in the proportion oc cells expressing TNF (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)

nervous system
• spinal inflammation is observed at 7 weeks of age (J:117880)
• spinal inflammation is observed at 7 weeks of age (J:117880)

craniofacial
• reduced bone volume is seen at 10 weeks of age (J:117880)
• reduced bone volume is seen at 10 weeks of age (J:117880)
• reduced cortical bone thickness is seen at 10 weeks of age (J:117880)
• jaws display increased numbers of osteoclasts at 10 weeks of age (J:117880)
• reduced cortical bone thickness is seen at 10 weeks of age (J:117880)
• jaws display increased numbers of osteoclasts at 10 weeks of age (J:117880)
• loss of bone around teeth is seen at 10 weeks of age (J:117880)
• loss of bone around teeth is seen at 10 weeks of age (J:117880)

respiratory system
• inflammation of the lung, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe lung inflammation (J:117880)
• inflammation of the lung, consisting of small foci of neutrophils and macrophages, is seen at 1 week of age (J:117880)
• at 2 weeks of age mice develop more severe lung inflammation (J:117880)

integument

cellular
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)

Mouse Models of Human Disease
OMIM ID Ref(s)
Cherubism 118400 J:117880




Genotype
MGI:3699095
ht2
Allelic
Composition
Sh3bp2tm1Bjro/Sh3bp2+
Genetic
Background
involves: 129S4/SvJae * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3bp2tm1Bjro mutation (0 available); any Sh3bp2 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• bone loss is detected in the long bones (J:117880)
• bone loss is detected in the long bones (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• reduced trabecular bone volume is seen in long bones; however trabecular thickness is similar to wild-type (J:117880)
• reduced trabecular bone volume is seen in long bones; however trabecular thickness is similar to wild-type (J:117880)
• pitting of the cortical surface is seen particularly at the distal ends of limb bones (J:117880)
• pitting of the cortical surface is seen particularly at the distal ends of limb bones (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoblasts (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoblasts (J:117880)
• reduced trabecular number is seen in long bones (J:117880)
• reduced trabecular number is seen in long bones (J:117880)

immune system
N
• unlike homozygous mice, heterozygotes do not develop enlarged lymph nodes, swelling of facial soft tissues, or elevated serum levels of TNF (J:117880)
• unlike homozygous mice, heterozygotes do not develop enlarged lymph nodes, swelling of facial soft tissues, or elevated serum levels of TNF (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)

homeostasis/metabolism
• elevated serum levels of tartrate-resistant acidic phosphatase (J:117880)
• elevated serum levels of tartrate-resistant acidic phosphatase (J:117880)

hematopoietic system
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in the numbers of osteoclasts in the jaws and femoral bone at 10 weeks of age (J:117880)
• increase in the fraction of the femoral trabecular bone perimeter that is occupied by osteoclasts (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)
• increase in resorptive activity on dentin slices compared to wild-type cells (J:117880)

cellular
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)
• bone marrow cells give rise to abnormally large osteoclasts even at concentrations of RANKL too low to induce osteoclast differentiation in wild-type cells and the number of nuclei per osteoclast is also increased relative to wild-type cells (J:117880)




Genotype
MGI:3831754
cn3
Allelic
Composition
Nfatc1tm3Glm/Nfatc1tm3Glm
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Tg(Mx1-cre)1Cgn/0
Genetic
Background
involves: 129S4/SvJae * C57BL/6 * CBA
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nfatc1tm3Glm mutation (1 available); any Nfatc1 mutation (3 available)
Sh3bp2tm1Bjro mutation (0 available); any Sh3bp2 mutation (3 available)
Tg(Mx1-cre)1Cgn mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• induction of cre at 10 days of age prevents the diffuse bone loss and focal cystic changes characteristic of mice homozygote for the Sh3bp2tm1Bjro allele (J:144598)
• induction of cre at 10 days of age prevents the diffuse bone loss and focal cystic changes characteristic of mice homozygote for the Sh3bp2tm1Bjro allele (J:144598)
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)
• a dramatic reduction in the number of TRAP+ cells is found iin the proximal humerus and distal femur (J:144598)
• a dramatic reduction in the number of TRAP+ cells is found iin the proximal humerus and distal femur (J:144598)

immune system
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)
• a dramatic reduction in the number of TRAP+ cells is found iin the proximal humerus and distal femur (J:144598)
• a dramatic reduction in the number of TRAP+ cells is found iin the proximal humerus and distal femur (J:144598)
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)

digestive/alimentary system
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)

liver/biliary system
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)

respiratory system
• widespread inflammation is observed (J:144598)
• widespread inflammation is observed (J:144598)

hematopoietic system
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)
• a dramatic reduction in the number of TRAP+ cells is found iin the proximal humerus and distal femur (J:144598)
• a dramatic reduction in the number of TRAP+ cells is found iin the proximal humerus and distal femur (J:144598)

cellular
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)
• bone marrow cells fail to differentiate into osteoclasts in vitro (J:144598)




Genotype
MGI:3699099
cx4
Allelic
Composition
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Tnftm1Gkl/Tnftm1Gkl
Genetic
Background
involves: 129S/SvEv * 129S4/SvJae * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Sh3bp2tm1Bjro mutation (0 available); any Sh3bp2 mutation (3 available)
Tnftm1Gkl mutation (5 available); any Tnf mutation (20 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• unlike in mice homozygous for the Sh3bp2 allele alone, trabecular and cortical bone loss are not seen (J:117880)
• unlike in mice homozygous for the Sh3bp2 allele alone, trabecular and cortical bone loss are not seen (J:117880)
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)

immune system
N
• unlike in mice homozygous for the Sh3bp2 allele alone, lymph node abnormalities and systemic inflammation are not seen (J:117880)
• unlike in mice homozygous for the Sh3bp2 allele alone, lymph node abnormalities and systemic inflammation are not seen (J:117880)
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)

hematopoietic system
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)

cellular
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone (J:117880)

Mouse Models of Human Disease
OMIM ID Ref(s)
NOT Cherubism 118400 J:117880




Genotype
MGI:3699096
cx5
Allelic
Composition
Rag1tm1Mom/Rag1tm1Mom
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Genetic
Background
involves: 129S4/SvJae * 129S7/SvEvBrd * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rag1tm1Mom mutation (27 available); any Rag1 mutation (45 available)
Sh3bp2tm1Bjro mutation (0 available); any Sh3bp2 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• decreased bone mineral density in the long bones at 10 weeks of age (J:117880)
• no improvement in bone loss compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• decreased bone mineral density in the long bones at 10 weeks of age (J:117880)
• no improvement in bone loss compared to mice homozygous for the Sh3bp2 allele alone (J:117880)

immune system
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• mice still develop the macrophage-rich inflammatory infiltrates in internal organs and periosteal regions that are seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• mice still develop the macrophage-rich inflammatory infiltrates in internal organs and periosteal regions that are seen in mice homozygous for the Sh3bp2 allele alone (J:117880)

homeostasis/metabolism
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)

hematopoietic system
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)

cellular
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• no change in abnormal osteoclast formation compared to mice homozygous for the Sh3bp2 allele alone (J:117880)




Genotype
MGI:3699098
cx6
Allelic
Composition
Csf1op/Csf1op
Sh3bp2tm1Bjro/Sh3bp2tm1Bjro
Genetic
Background
involves: 129S4/SvJae * BALB/cJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Csf1op mutation (1 available); any Csf1 mutation (6 available)
Sh3bp2tm1Bjro mutation (0 available); any Sh3bp2 mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
skeleton
N
• the cortical bone resorption seen in mice homozygous for the Sh3bp2 allele alone is practically eliminated (J:117880)
• the cortical bone resorption seen in mice homozygous for the Sh3bp2 allele alone is practically eliminated (J:117880)

immune system
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• increase in macrophage numbers in the lymph nodes similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• increase in macrophage numbers in the lymph nodes similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• inflammation is still present but the severity is greatly reduced compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• however, inflammation of the stomach mucosa seen in mice homozygous for the Sh3bp2 allele alone is practically eliminated (J:117880)
• inflammation is still present but the severity is greatly reduced compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• however, inflammation of the stomach mucosa seen in mice homozygous for the Sh3bp2 allele alone is practically eliminated (J:117880)

liver/biliary system
• inflammation is still present but the severity is greatly reduced compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• however, inflammation of the stomach mucosa seen in mice homozygous for the Sh3bp2 allele alone is practically eliminated (J:117880)
• inflammation is still present but the severity is greatly reduced compared to mice homozygous for the Sh3bp2 allele alone (J:117880)
• however, inflammation of the stomach mucosa seen in mice homozygous for the Sh3bp2 allele alone is practically eliminated (J:117880)

homeostasis/metabolism
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)
• serum levels of TNF are elevated similar to what is seen in mice homozygous for the Sh3bp2 allele alone (J:117880)





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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory