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Phenotypes Associated with This Genotype
Genotype
MGI:5563097
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 (42 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• feeding with soft chow does not improve survival
• die within 30 days of age

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


Contributing Projects:
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
12/10/2024
MGI 6.24
The Jackson Laboratory