| Monarch Ortholog Phenotypes
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Human (11 sources):
Elevated circulating creatine kinase concentration,
Exercise intolerance,
Increased circulating lactate concentration,
Increased serum pyruvate,
Muscle spasm,
Muscle stiffness,
Myalgia,
Myoglobinuria,
Renal insufficiency,
Rhabdomyolysis,
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Mouse (21 sources):
abnormal common myeloid progenitor cell morphology,
decreased body size,
decreased circulating alanine transaminase level,
decreased circulating alkaline phosphatase level,
decreased erythrocyte cell number,
decreased hematocrit,
decreased hemoglobin content,
decreased lactate dehydrogenase level,
embryonic lethality during organogenesis, complete penetrance,
embryonic lethality during organogenesis, incomplete penetrance,
hematopoietic system phenotype,
increased heart weight,
increased liver weight,
increased lung weight,
increased neutrophil cell number,
increased spleen weight,
no abnormal phenotype detected,
postnatal lethality, complete penetrance,
preweaning lethality, complete penetrance,
preweaning lethality, incomplete penetrance,
spleen hyperplasia
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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.