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Phenotypes Associated with This Genotype
Genotype
MGI:6441471
Allelic
Composition
Snx10em2Ael/Snx10em2Ael
Genetic
Background
involves: 129 * C57BL/6J * C57BL/6JOlaHsd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Snx10em2Ael mutation (0 available); any Snx10 mutation (137 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• overall survival of mice is poor, although mice can grow up to 6-8 weeks in the presence of lactating females

growth/size/body
• molars fail to erupt and are embedded in osteopetrotic maxillary and mandibular bone and covered by a layer of connective tissue or bone
• caudal parts of maxillary and mandibular incisors are replaced by irregular fragments of odontogenic tissue; odontogenic tissue includes cellular components of epithelial, mesenchymal, and areas of very dense cellular germinative tissue, as well as dental matrix
• all mice lack teeth
• by 4 weeks of age
• by 4 weeks of age
• by 4 weeks of age
• mice show growth retardation after around 2 weeks of age, showing lags in body weight and length by 4 weeks of age

skeleton
• molars fail to erupt and are embedded in osteopetrotic maxillary and mandibular bone and covered by a layer of connective tissue or bone
• caudal parts of maxillary and mandibular incisors are replaced by irregular fragments of odontogenic tissue; odontogenic tissue includes cellular components of epithelial, mesenchymal, and areas of very dense cellular germinative tissue, as well as dental matrix
• all mice lack teeth
• endogenous osteoclasts show abnormal ruffled border morphology
• splenocytes induced to become osteoclasts in vitro lack ruffled borders, appear to be less adherent and often fail to adhere to the bone surface
• femurs and vertebrae exhibit fewer osteoclasts and reduced bone surface occupancy
• osteoclasts lack resorption capacity
• splenocytes induced to become osteoclasts show areas of low pH, indicating a loss in capacity for extracelluar acidification
• some mice develop mandibular osteomyelitis, involving the osteopetrotic bone and surrounding soft tissues
• femurs are shorter, deformed, and display a pockmarked appearance at the cortical bone surface
• femurs show reduced cortical thickness
• bone mineral density is moderately reduced
• femurs show reduced cortical mineral density
• bone exhibits reduced numbers of osteoblasts per unit bone surface area
• however, bones contain normal numbers of osteocytes and osteoblasts exhibit similar mineralization rates in vitro as wild-type osteoblasts
• proximal tibias show massively increased amounts of trabecular bone and reduced bone marrow space
• the number of trabeculae per unit of bone volume is increased
• the bone marrow cavity is completely replaced by bone
• femurs exhibit the autosomal recessive osteopetrosis Erlenmeyer flask shape
• mice exhibit massive osteopetrosis, which is also seen in most skull bones
• however, gastric pH and stomach appearance are normal, and circulating levels of calcium and PTH are normal indicating that mice are not rachitic
• massive osteopetrosis and inactive osteoclasts, and normal bone formation rates indicate that osteopetrosis is due to reduced bone resorption

craniofacial
• molars fail to erupt and are embedded in osteopetrotic maxillary and mandibular bone and covered by a layer of connective tissue or bone
• caudal parts of maxillary and mandibular incisors are replaced by irregular fragments of odontogenic tissue; odontogenic tissue includes cellular components of epithelial, mesenchymal, and areas of very dense cellular germinative tissue, as well as dental matrix
• all mice lack teeth

hematopoietic system
• endogenous osteoclasts show abnormal ruffled border morphology
• splenocytes induced to become osteoclasts in vitro lack ruffled borders, appear to be less adherent and often fail to adhere to the bone surface
• femurs and vertebrae exhibit fewer osteoclasts and reduced bone surface occupancy
• osteoclasts lack resorption capacity
• splenocytes induced to become osteoclasts show areas of low pH, indicating a loss in capacity for extracelluar acidification

homeostasis/metabolism
• mice exhibit elevated levels of plasma collagen type-I cross-linked C-terminal telopeptides
• reduction in levels of circulating 25(OH)-vitamin D

immune system
• endogenous osteoclasts show abnormal ruffled border morphology
• splenocytes induced to become osteoclasts in vitro lack ruffled borders, appear to be less adherent and often fail to adhere to the bone surface
• femurs and vertebrae exhibit fewer osteoclasts and reduced bone surface occupancy
• osteoclasts lack resorption capacity
• splenocytes induced to become osteoclasts show areas of low pH, indicating a loss in capacity for extracelluar acidification
• some mice develop mandibular osteomyelitis, involving the osteopetrotic bone and surrounding soft tissues

limbs/digits/tail
• femurs are shorter, deformed, and display a pockmarked appearance at the cortical bone surface
• femurs show reduced cortical thickness

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal recessive osteopetrosis 8 DOID:0110940 OMIM:615085
J:289051


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
02/16/2021
MGI 6.16
The Jackson Laboratory