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Human Disease and Mouse Model Detail
Human Disease Osteopetrosis, Autosomal Recessive 1; OPTB1
OMIM ID: 259700
Human Phenotype Ontology associations
Synonyms Albers-Schonberg Disease, Autosomal Recessive; Marble Bones, Autosomal Recessive; Osteopetrosis; Osteopetrosis, Infantile Malignant 1
View all models View ALL (3) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     TCIRG1* Tcirg1* View 2 models HomoloGene and HGNC
     ntl* View 1 model
References Disease References using Mouse Models (4)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory