| Monarch Ortholog Phenotypes
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Human (25 sources):
Biconcave flattened vertebrae,
Blue sclerae,
Bowing of limbs due to multiple fractures,
Decreased muscle mass,
Delayed speech and language development,
Dentinogenesis imperfecta,
Femoral bowing present at birth, straightening with time,
Hearing impairment,
Increased susceptibility to fractures,
Intraventricular hemorrhage,
Kyphosis,
Motor delay,
Muscle weakness,
Muscular hypotonia,
Osteoporosis,
Otosclerosis,
Platyspondyly,
Recurrent fractures,
Reduced bone mineral density,
Scoliosis,
Short stature,
Soft skin,
Thin metacarpal cortices,
Vertebral compression fractures,
Wormian bones
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Mouse (26 sources):
abnormal bone remodeling,
abnormal bone strength,
abnormal humerus morphology,
abnormal incisor color,
abnormal lens capsule morphology,
abnormal lens epithelium morphology,
abnormal lens fiber morphology,
abnormal osteoblast morphology,
abnormal osteoclast morphology,
abnormal retinal layer morphology,
abnormal skeleton physiology,
decreased body length,
decreased bone mineral content,
decreased heart weight,
decreased lean body mass,
decreased mean corpuscular hemoglobin concentration,
decreased osteoblast cell number,
decreased osteoclast cell number,
delayed wound healing,
enhanced wound healing,
eye inflammation,
hematopoietic system phenotype,
hypoactivity,
increased tumor growth/size,
ruptured lens capsule,
vitreous body inflammation
[+]
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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.