| Monarch Ortholog Phenotypes
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Human (21 sources):
Abnormality of metabolism/homeostasis,
Abnormality of pelvic girdle bone morphology,
Abnormality of the dentition,
Abnormality of the orbital region,
Anterior radial head dislocation,
Biconcave vertebral bodies,
Blue sclerae,
Dentinogenesis imperfecta,
Hyperextensibility at elbow,
Hyperextensibility of the finger joints,
Hyperplastic callus formation,
Joint hypermobility,
Limited pronation/supination of forearm,
Osteopenia,
Pes planus,
Platyspondyly,
Recurrent fractures,
Short stature,
Triangular face,
Vertebral wedging,
Wormian bones
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Mouse (31 sources):
abnormal bone marrow cavity morphology,
abnormal clavicle morphology,
abnormal cranium morphology,
abnormal ilium body morphology,
abnormal limb morphology,
abnormal long bone diaphysis morphology,
abnormal mandible morphology,
abnormal neurocranium morphology,
abnormal osteoblast physiology,
abnormal osteoclast morphology,
absent compact bone,
decreased alkaline phosphatase activity,
decreased bone mineralization,
decreased bone trabecula number,
decreased bone volume,
decreased compact bone area,
decreased litter size,
decreased trabecular bone volume,
disorganized long bone epiphyseal plate,
impaired osteoblast differentiation,
increased bone trabecular spacing,
increased osteoid volume,
increased width of hypertrophic chondrocyte zone,
mandible hypoplasia,
neonatal lethality, complete penetrance,
postnatal lethality, incomplete penetrance,
prenatal lethality, incomplete penetrance,
short mandible,
skeleton phenotype,
small clavicle,
thin frontal bone
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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.