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Phenotypes Associated with This Genotype
Genotype
MGI:3699099
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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory