Phenotypes Associated with This Genotype

Genotype
MGI:3699099

• Allelic Composition: Sh3bp2^tm1Bjro/Sh3bp2^tm1Bjro; Tnf^tm1Gkl/Tnf^tm1Gkl
• Genetic Background: involves: 129S/SvEv * 129S4/SvJae * BALB/cJ * C57BL/6J

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

skeleton

skeleton phenotype ( J:117880 )

N • unlike in mice homozygous for the Sh3bp2 allele alone, trabecular and cortical bone loss are not seen

abnormal osteoclast differentiation ( J:117880 )

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

immune system

immune system phenotype ( J:117880 )

N • unlike in mice homozygous for the Sh3bp2 allele alone, lymph node abnormalities and systemic inflammation are not seen

abnormal osteoclast differentiation ( J:117880 )

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

hematopoietic system

abnormal osteoclast differentiation ( J:117880 )

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

cellular

abnormal osteoclast differentiation ( J:117880 )

• 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