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Phenotypes Associated with This Genotype
Genotype
MGI:5563098
Allelic
Composition
Clcn7tm1.1Teti/Clcn7+
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm1.1Teti mutation (0 available); any Clcn7 mutation (4 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
hematopoietic system
• increase in osteoclast number at 3 months of age
• increase in osteoclast surface/bone surface ratio in the proximal tibia at 3 months of age
• when cultured with M-CSF and RANKL, TRAcP-positive mononuclear osteoclast precursors from the bone marrow form a higher number of osteoclasts
• osteoclasts show a reduction of resorption pit formation

homeostasis/metabolism

immune system
• increase in osteoclast number at 3 months of age
• increase in osteoclast surface/bone surface ratio in the proximal tibia at 3 months of age
• when cultured with M-CSF and RANKL, TRAcP-positive mononuclear osteoclast precursors from the bone marrow form a higher number of osteoclasts
• osteoclasts show a reduction of resorption pit formation

nervous system
N
• mice do not exhibit neurodegeneration in the hippocampus or cerebellar cortex at 1 or 12 months of age

skeleton
• increase in osteoclast number at 3 months of age
• increase in osteoclast surface/bone surface ratio in the proximal tibia at 3 months of age
• when cultured with M-CSF and RANKL, TRAcP-positive mononuclear osteoclast precursors from the bone marrow form a higher number of osteoclasts
• osteoclasts show a reduction of resorption pit formation
• bone marrow shows increased TRAcP-positive mononuclear osteoclast precursors; when cultured with M-CSF and RANKL, these precursors form a higher number of osteoclasts
• 3 month old mice have a higher whole body areal bone mineral density
• 3 month old mice exhibit a lesser trabecular separation
• however, no changes in trabecular thickness are seen
• 3 month old mice exhibit a greater trabecular bone volume in femur, tibia, and vertebrae
• in 3 month old mice
• increase in bone mass is persistent with time
• females have a lower bone mass and more pronounced bone volume/total tissue volume elevation than males
• exhibit signs of milder osteopetrosis
• marker analysis suggests a reduction of bone resorption

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
autosomal dominant osteopetrosis 2 DOID:0110938 OMIM:166600
J:203761


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
12/04/2018
MGI 6.13
The Jackson Laboratory