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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Clcn7tm1.1Teti
targeted mutation 1.1, Anna Teti
MGI:5563089
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Clcn7tm1.1Teti/Clcn7tm1.1Teti involves: 129S2/SvPas * C57BL/6 MGI:5563097
hm2
Clcn7tm1.1Teti/Clcn7tm1.1Teti involves: 129S2/SvPas * CD-1 MGI:5563101
ht3
Clcn7tm1.1Teti/Clcn7+ involves: 129S2/SvPas * C57BL/6 MGI:5563098


Genotype
MGI:5563097
hm1
Allelic
Composition
Clcn7tm1.1Teti/Clcn7tm1.1Teti
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 (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within 30 days of age
• feeding with soft chow does not improve survival

growth/size/body
• lack tooth eruption

craniofacial
• lack tooth eruption

nervous system
• extensive neurodegeneration in the hippocampal regions and cerebellar cortex

skeleton
• lack tooth eruption
• fibrotic bone marrow
• mice are severely osteopetrotic

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




Genotype
MGI:5563101
hm2
Allelic
Composition
Clcn7tm1.1Teti/Clcn7tm1.1Teti
Genetic
Background
involves: 129S2/SvPas * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Clcn7tm1.1Teti mutation (0 available); any Clcn7 mutation (40 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• die within 30 days of age
• feeding with soft chow does not improve survival

growth/size/body
• lack tooth eruption

craniofacial
• lack tooth eruption

skeleton
• lack tooth eruption
• severely osteopetrotic

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




Genotype
MGI:5563098
ht3
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 (40 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 greater trabecular bone volume in femur, tibia, and vertebrae
• in 3 month old mice
• 3 month old mice exhibit a lesser trabecular separation
• however, no changes in trabecular thickness are seen
• 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





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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory