| Monarch Ortholog Phenotypes
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Human (8 sources):
Clavicular sclerosis,
Elevated circulating alkaline phosphatase concentration,
Generalized hypotonia,
Global developmental delay,
Hypotonia,
Intellectual disability,
Metaphyseal dysplasia,
Seizure
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Mouse (38 sources):
abnormal bone marrow cavity morphology,
abnormal bone mineralization,
abnormal circulating alkaline phosphatase level,
abnormal circulating aspartate transaminase level,
abnormal clavicle morphology,
abnormal humerus morphology,
abnormal lean body mass,
abnormal locomotor behavior,
abnormal long bone metaphysis morphology,
abnormal mandible morphology,
abnormal maxilla morphology,
abnormal osteoclast physiology,
abnormal red blood cell distribution width,
abnormal snout morphology,
abnormal zygomatic bone morphology,
absent teeth,
craniofacial phenotype,
decreased blood urea nitrogen level,
decreased circulating alkaline phosphatase level,
decreased eosinophil cell number,
decreased lean body mass,
decreased susceptibility to osteoporosis,
homeostasis/metabolism phenotype,
increased bone mineral content,
increased bone trabecula number,
increased circulating aspartate transaminase level,
increased compact bone thickness,
increased neutrophil cell number,
increased osteoclast cell number,
increased red blood cell distribution width,
increased spleen weight,
increased total body fat amount,
increased trabecular bone thickness,
increased trabecular bone volume,
osteosclerosis,
preweaning lethality, incomplete penetrance,
skeleton phenotype,
small thymus
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View all ortholog results at Monarch
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Gene expression phenotype annotations where the gene of interest has been
disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from
differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1,
FDR <= 0.05 and an absolute LogFC >= 2.