Phenotypes associated with this allele

• Allele Symbol: Clcn7^tm1.1Mjec
• Allele Name: targeted mutation 1.1, Michael J Econs
• Allele ID: MGI:5563124
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Clcn7^tm1.1Mjec/Clcn7^+	involves: 129 * 129S/SvEv * C57BL/6	MGI:5563125
ht2	Clcn7^tm1.1Mjec/Clcn7^+	involves: 129S/SvEv * BALB/cJ * C57BL/6	MGI:5563152
ht3	Clcn7^tm1.1Mjec/Clcn7^+	involves: 129S/SvEv * C57BL/6 * DBA/2J	MGI:5563141
ht4	Clcn7^tm1.1Mawa/Clcn7^tm1.1Mjec	involves: 129 * C57BL/6J * C57BL/6N * CD-1	MGI:6259533

Genotype
MGI:5563125

ht1

• Allelic Composition: Clcn7^tm1.1Mjec/Clcn7⁺
• Genetic Background: involves: 129 * 129S/SvEv * C57BL/6

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

skeleton

increased areal bone mineral density ( J:203761 )

• whole areal bone mineral density at 3 months of age is very high

• Background Sensitivity: 8% increase in whole body areal bone mineral density on the 129 background compared to 4% increase on a DBA/2J background and 3.8% on a BALB/cJ background

increased trabecular bone volume ( J:203761 )

increased bone trabecula number ( J:203761 )

decreased bone trabecular spacing ( J:203761 )

• trabecular separation is lower

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

Genotype
MGI:5563152

ht2

• Allelic Composition: Clcn7^tm1.1Mjec/Clcn7⁺
• Genetic Background: involves: 129S/SvEv * BALB/cJ * C57BL/6

skeleton

increased bone mineral density ( J:203761 )

• Background Sensitivity: 3.8% increase in whole body areal bone mineral density on the BALB/cJ background compared to 8% increase on a 129 background and 4% on a DBA/2J background

increased trabecular bone volume ( J:203761 )

Genotype
MGI:5563141

ht3

• Allelic Composition: Clcn7^tm1.1Mjec/Clcn7⁺
• Genetic Background: involves: 129S/SvEv * C57BL/6 * DBA/2J

homeostasis/metabolism

increased circulating alkaline phosphatase level ( J:203761 )

skeleton

increased bone mineral density ( J:203761 )

• Background Sensitivity: 4% increase in whole body areal bone mineral density on the DBA/2J background compared to 8% increase on a 129 background and 3.8% on a BALB/cJ background

abnormal trabecular bone morphology ( J:203761 )

• trabecular separation is lower

increased trabecular bone volume ( J:203761 )

increased bone trabecula number ( J:203761 )

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

Genotype
MGI:6259533

ht4

• 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 )