| Monarch Ortholog Phenotypes
|
Human (32 sources):
Abnormal sternum morphology,
Broad columella,
Coarse facial features,
Cryptorchidism,
Delayed skeletal maturation,
Developmental cataract,
Elbow flexion contracture,
Epicanthus,
Glaucoma,
Global developmental delay,
Hearing impairment,
Hepatomegaly,
Hypercalcemia,
Hypercalciuria,
Hypocalcemia,
Hypothyroidism,
Lacunar stroke,
Low anterior hairline,
Low posterior hairline,
Macroglossia,
Oligodontia,
Protein-losing enteropathy,
Renal agenesis,
Scoliosis,
Short femoral neck,
Short stature,
Small for gestational age,
Splenomegaly,
Thoracic hypoplasia,
Thoracic kyphosis,
Urinary glycosaminoglycan excretion,
Wide nasal bridge
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Mouse (40 sources):
abnormal blood homeostasis,
abnormal embryo size,
abnormal forebrain development,
abnormal hindbrain development,
abnormal kidney morphology,
abnormal megakaryocyte morphology,
abnormal midbrain development,
abnormal plasma membrane morphology,
abnormal platelet alpha-granule morphology,
abnormal podocyte morphology,
abnormal renal glomerulus morphology,
abnormal thrombopoiesis,
cardiovascular system phenotype,
decreased body size,
decreased circulating bilirubin level,
decreased erythrocyte cell number,
decreased hematocrit,
decreased hemoglobin content,
decreased lean body mass,
decreased locomotor activity,
decreased mean corpuscular hemoglobin,
decreased platelet alpha-granule number,
decreased susceptibility to induced thrombosis,
embryonic lethality prior to tooth bud stage,
enlarged lymph nodes,
homeostasis/metabolism phenotype,
immune system phenotype,
increased CD4-positive, alpha beta T cell number,
increased CD8-positive, alpha-beta T cell number,
increased anti-double stranded DNA antibody level,
increased circulating alkaline phosphatase level,
increased circulating creatinine level,
increased granulocyte number,
increased neutrophil cell number,
pale kidney,
podocyte foot process effacement,
premature death,
prenatal lethality, complete penetrance,
preweaning lethality, complete penetrance,
small kidney
[+]
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View all ortholog results at Monarch
|
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.