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Phenotypes Associated with This Genotype
Genotype
MGI:5691824
Allelic
Composition
Tnfsf11gum/Tnfsf11gum
Genetic
Background
STOCK Tnfsf11gum/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tnfsf11gum mutation (1 available); any Tnfsf11 mutation (25 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
behavior/neurological
• pups of homozygous females all die postnatally, consistent with failed lactation

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

reproductive system
• homozygotes have reduced fertility

skeleton
• 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
• The skull is smaller than normal, with highly thickened bone and high levels of ossification in the hyoid and zygomatic arches
• high levels of ossification
• teeth are present but fail to erupt
• an additional tooth in or around the mandibular foramina
• the anterior mandible is hypoplastic and the angle and condyle of the mandible is misshapen
• high levels of ossification
• dramatically denser bones have completely filled medullary space in the long bones
• 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
• 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
• 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
• The skull is smaller than normal, with highly thickened bone and high levels of ossification in the hyoid and zygomatic arches
• high levels of ossification
• teeth are present but fail to erupt
• an additional tooth in or around the mandibular foramina
• the anterior mandible is hypoplastic and the angle and condyle of the mandible is misshapen
• high levels of ossification

growth/size/body
• teeth are present but fail to erupt
• an additional tooth in or around the mandibular foramina
• homozygots are much smaller than littermate controls
• consistent with significantly smaller overall body size, the body weight of homozygous males and females is less than normal

limbs/digits/tail
• 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


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
03/24/2020
MGI 6.15
The Jackson Laboratory