Phenotypes Associated with This Genotype

Genotype
MGI:6259526

• Allelic Composition: Clcn7^tm1.1Mawa/Clcn7⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N * CD-1

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

skeleton

increased osteoclast cell number ( J:254787 )

♂ • males exhibit more osteoclasts per bone perimeter and surface area indicating increased osteoclast number

♂ • interferon-gamma therapy decreases osteoclast number

increased bone mineral density ( J:254787 )

♂ • males show a slight increase in bone mineral density at 12 weeks of age

increased trabecular bone volume ( J:254787 )

• mice exhibit an increase in trabecular bone volume fraction

• interferon-gamma therapy from 4-12 weeks of age does not reduce trabecular bone volume

decreased compact bone area ( J:254787 )

♂ • males exhibit a decrease in cortical area fraction

decreased compact bone thickness ( J:254787 )

♂ • males exhibit a decrease in cortical thickness

increased bone trabecula number ( J:254787 )

decreased bone trabecular spacing ( J:254787 )

increased trabecular bone thickness ( J:254787 )

♀ • females exhibit an increase in trabecular thickness

osteopetrosis ( J:254787 )

decreased bone strength ( J:254787 )

♂ • males, but not females, show a decrease in energy to ultimate force in the three-point bending assay, indicating decreased bone strength

hematopoietic system

increased osteoclast cell number ( J:254787 )

♂ • males exhibit more osteoclasts per bone perimeter and surface area indicating increased osteoclast number

♂ • interferon-gamma therapy decreases osteoclast number

immune system

increased osteoclast cell number ( J:254787 )

♂ • males exhibit more osteoclasts per bone perimeter and surface area indicating increased osteoclast number

♂ • interferon-gamma therapy decreases osteoclast number

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal dominant osteopetrosis 2		DOID:0110938	OMIM:166600	J:254787