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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 (35 available)
Tnftm1Gkl mutation (6 available); any Tnf mutation (46 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
• bone marrow displays enhanced production of osteoclasts in response to cytokine stimulation, similar to mice homozygous for the Sh3bp2 allele alone

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

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

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

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
NOT cherubism DOID:1856 OMIM:118400
J:117880


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/12/2024
MGI 6.23
The Jackson Laboratory