ostm1 Phenotypes

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Phenotypes

Gene Literature (4)

Nucleotides (149)

Interactants (15)

XB-GENEPAGE-989540

Gene Symbol: ostm1 Gene Name: osteopetrosis associated transmembrane protein 1

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (50 sources): Abnormal myelination, Abnormality of metabolism/homeostasis, Abnormality of the coagulation cascade, Abnormality of the skeletal system, Absence of renal corticomedullary differentiation, Agenesis of corpus callosum, Anemia, Ascites, Astigmatism, Axial hypotonia, Brain atrophy, Cerebral atrophy, Clonus, Conductive hearing impairment, Cranial nerve paralysis, Decreased osteoclast count, Extramedullary hematopoiesis, Fetal distress, Flared metaphysis, Generalized hypotonia, Generalized-onset seizure, Gingival overgrowth, Global developmental delay, Growth delay, Hepatic failure, Hepatomegaly, Hydrocephalus, Hyperbilirubinemia, Hyperreflexia, Hypocalcemia, Hypoplastic hippocampus, Increased skull ossification, Microcephaly, Micrognathia, Nystagmus, Optic atrophy, Optic disc pallor, Osteopetrosis, Pancytopenia, Partial agenesis of the corpus callosum, Peripheral neuropathy, Pneumonia, Respiratory insufficiency, Seizure, Short stature, Spastic tetraplegia, Splenomegaly, Thrombocytopenia, Ventriculomegaly, Visual impairment [+]
Mouse (22 sources): abnormal deltoid tuberosity morphology, abnormal dentin mineralization, abnormal hair shaft melanin granule distribution, abnormal maxilla morphology, abnormal maxillary zygomatic process morphology, abnormal mental foramen morphology, abnormal molar crown morphology, abnormal molar root morphology, abnormal skeleton development, decreased body size, decreased hemoglobin content, decreased lean body mass, delayed eyelid opening, eye inflammation, failure of bone ossification, failure of bone resorption, homeostasis/metabolism phenotype, increased circulating alkaline phosphatase level, lethality at weaning, incomplete penetrance, premature death, short incisors, short lower incisors [+]
View all ortholog results at Monarch