Phenotypes Associated with This Genotype

Genotype
MGI:5563098

• Allelic Composition: Clcn7^tm1.1Teti/Clcn7⁺
• Genetic Background: involves: 129S2/SvPas * C57BL/6

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

hematopoietic system

increased osteoclast cell number ( J:203761 )

• 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

abnormal osteoclast physiology ( J:203761 )

• osteoclasts show a reduction of resorption pit formation

homeostasis/metabolism

increased circulating parathyroid hormone level ( J:203761 )

immune system

increased osteoclast cell number ( J:203761 )

• 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

abnormal osteoclast physiology ( J:203761 )

• osteoclasts show a reduction of resorption pit formation

nervous system

nervous system phenotype ( J:203761 )

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

skeleton

increased osteoclast cell number ( J:203761 )

• 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

abnormal osteoclast physiology ( J:203761 )

• osteoclasts show a reduction of resorption pit formation

abnormal bone marrow morphology ( J:203761 )

• bone marrow shows increased TRAcP-positive mononuclear osteoclast precursors; when cultured with M-CSF and RANKL, these precursors form a higher number of osteoclasts

increased areal bone mineral density ( J:203761 )

• 3 month old mice have a higher whole body areal bone mineral density

increased trabecular bone volume ( J:203761 )

• 3 month old mice exhibit a greater trabecular bone volume in femur, tibia, and vertebrae

increased bone trabecula number ( J:203761 )

• in 3 month old mice

decreased bone trabecular spacing ( J:203761 )

• 3 month old mice exhibit a lesser trabecular separation

• however, no changes in trabecular thickness are seen

increased bone mass ( J:203761 )

• 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

osteopetrosis ( J:203761 )

• exhibit signs of milder osteopetrosis

decreased bone resorption ( J:203761 )

• 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