Phenotypes Associated with This Genotype

Genotype
MGI:5691824

• Allelic Composition: Tnfsf11^gum/Tnfsf11^gum
• Genetic Background: STOCK Tnfsf11^gum/GrsrJ

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

behavior/neurological

abnormal maternal nurturing ( J:223062 )

• pups of homozygous females all die postnatally, consistent with failed lactation

muscle

dystrophic muscle ( J:223062 )

• pathology showed small muscle fibers, muscle fiber degeneration, and regeneration in 4 of 6 homozygotes

reproductive system

reduced fertility ( J:223062 )

• homozygotes have reduced fertility

skeleton

abnormal craniofacial bone morphology ( J:223062 )

• dramatic ossification of the skull, particularly high levels of ossification of the hyoid and zygomatic arches, failed tooth eruption, and severely misshapen mandible result in an abnormal head shape

abnormal cranial suture morphology ( J:223062 )

small cranium ( J:223062 )

• The skull is smaller than normal, with highly thickened bone and high levels of ossification in the hyoid and zygomatic arches

abnormal hyoid bone body morphology ( J:223062 )

• high levels of ossification

failure of tooth eruption ( J:223062 )

• teeth are present but fail to erupt

supernumerary teeth ( J:223062 )

• an additional tooth in or around the mandibular foramina

mandible hypoplasia ( J:223062 )

• the anterior mandible is hypoplastic and the angle and condyle of the mandible is misshapen

abnormal zygomatic bone morphology ( J:223062 )

• high levels of ossification

abnormal long bone internal diameter ( J:223062 )

• dramatically denser bones have completely filled medullary space in the long bones

decreased internal diameter of femur ( J:223062 )

increased bone mineral content ( J:223062 )

abnormal areal bone mineral density ( J:223062 )

• whole body areal bone mineral density is higher than normal but skull BMC and skull to body areal bone mineral density ratio are lower than normal due to the smaller head size

increased areal bone mineral density ( J:223062 )

osteopetrosis ( J:223062 )

• homozygotes have dramatically denser bones and completely filled medullary space in the long bones and the bone of the skull is dramatically denser than normal

craniofacial

abnormal craniofacial bone morphology ( J:223062 )

• dramatic ossification of the skull, particularly high levels of ossification of the hyoid and zygomatic arches, failed tooth eruption, and severely misshapen mandible result in an abnormal head shape

abnormal cranial suture morphology ( J:223062 )

small cranium ( J:223062 )

• The skull is smaller than normal, with highly thickened bone and high levels of ossification in the hyoid and zygomatic arches

abnormal hyoid bone body morphology ( J:223062 )

• high levels of ossification

failure of tooth eruption ( J:223062 )

• teeth are present but fail to erupt

supernumerary teeth ( J:223062 )

• an additional tooth in or around the mandibular foramina

mandible hypoplasia ( J:223062 )

• the anterior mandible is hypoplastic and the angle and condyle of the mandible is misshapen

abnormal zygomatic bone morphology ( J:223062 )

• high levels of ossification

growth/size/body

failure of tooth eruption ( J:223062 )

• teeth are present but fail to erupt

supernumerary teeth ( J:223062 )

• an additional tooth in or around the mandibular foramina

decreased lean body mass ( J:223062 )

decreased body size ( J:223062 )

• homozygots are much smaller than littermate controls

decreased body weight ( J:223062 )

• consistent with significantly smaller overall body size, the body weight of homozygous males and females is less than normal

limbs/digits/tail

decreased internal diameter of femur ( J:223062 )

abnormal tail length ( J:223062 )

• proportionally shorter tail length

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive osteopetrosis 2		DOID:0110943	OMIM:259710	J:223062