Phenotypes associated with this allele

• Allele Symbol: Clcn7^tm1.1Mawa
• Allele Name: targeted mutation 1.1, Matthew Warman
• Allele ID: MGI:5882799
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Clcn7^tm1.1Mawa/Clcn7^tm1.1Mawa	involves: C57BL/6J * C57BL/6N * CD-1	MGI:6259525
ht2	Clcn7^tm1.1Mawa/Clcn7^+	involves: C57BL/6J * C57BL/6N * CD-1	MGI:6259526
ht3	Clcn7^tm1.1Mawa/Clcn7^tm1.1Mjec	involves: 129 * C57BL/6J * C57BL/6N * CD-1	MGI:6259533

Genotype
MGI:6259525

hm1

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

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

mortality/aging

premature death ( J:254787 )

• mice die around 1 month of age

growth/size/body

failure of tooth eruption ( J:254787 )

• mice do not have toot eruption

decreased body size ( J:254787 )

• mice are runted and are smaller at 3 weeks of age

skeleton

failure of tooth eruption ( J:254787 )

• mice do not have toot eruption

increased bone mineral density ( J:254787 )

• 3 week old mice exhibit greater bone mineral density

craniofacial

failure of tooth eruption ( J:254787 )

• mice do not have toot eruption

Genotype
MGI:6259526

ht2

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

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

Genotype
MGI:6259533

ht3

• Allelic Composition: Clcn7^tm1.1Mawa/Clcn7^tm1.1Mjec
• Genetic Background: involves: 129 * C57BL/6J * C57BL/6N * CD-1

mortality/aging

premature death ( J:254787 )

• mice die by around 1 month of age

growth/size/body

failure of tooth eruption ( J:254787 )

decreased body size ( J:254787 )

• mice are runted

skeleton

failure of tooth eruption ( J:254787 )

craniofacial

failure of tooth eruption ( J:254787 )