Phenotypes Associated with This Genotype

Genotype
MGI:5307894

• Allelic Composition: Tnfsf11^tles/Tnfsf11^tles
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6J

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

mortality/aging

premature death ( J:179743 )

• most mice die by the seventh week of age

skeleton

skeleton phenotype ( J:179743 )

N • bone marrow exposed to wild-type osteoblasts exhibits normal differentiation into osteoclasts

abnormal osteoblast physiology ( J:179743 )

• in culture, osteoblasts fail to produce adequate crosstalk to promote differentiation of wild-type hematopoietic progenitors into osteoclasts

failure of tooth eruption ( J:179743 )

decreased osteoclast cell number ( J:179743 )

• absent

• however, treatment with TNFSF11 restores osteoclast formation

increased bone volume ( J:179743 )

abnormal trabecular bone morphology ( J:179743 )

• trabecular spacing is reduced compared to in wild-type mice

increased bone trabecula number ( J:179743 )

osteopetrosis ( J:179743 )

• severe

immune system

thymus hypoplasia ( J:179743 )

enlarged spleen ( J:179743 )

decreased osteoclast cell number ( J:179743 )

• absent

• however, treatment with TNFSF11 restores osteoclast formation

absent lymph nodes ( J:179743 )

growth/size/body

failure of tooth eruption ( J:179743 )

postnatal growth retardation ( J:179743 )

enlarged spleen ( J:179743 )

craniofacial

failure of tooth eruption ( J:179743 )

hematopoietic system

thymus hypoplasia ( J:179743 )

enlarged spleen ( J:179743 )

decreased osteoclast cell number ( J:179743 )

• absent

• however, treatment with TNFSF11 restores osteoclast formation

endocrine/exocrine glands

thymus hypoplasia ( J:179743 )

cellular

abnormal osteoblast physiology ( J:179743 )

• in culture, osteoblasts fail to produce adequate crosstalk to promote differentiation of wild-type hematopoietic progenitors into osteoclasts

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive osteopetrosis 2		DOID:0110943	OMIM:259710	J:179743