| Monarch Ortholog Phenotypes
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Human (28 sources):
Abnormal hair quantity,
Aminoaciduria,
Ataxia,
Brittle hair,
Cerebral edema,
Coma,
Dry hair,
EEG abnormality,
Elevated circulating aspartate aminotransferase concentration,
Episodic ammonia intoxication,
Failure to thrive,
Feeding difficulties in infancy,
Global developmental delay,
Hepatic fibrosis,
Hepatomegaly,
Hyperammonemia,
Hyperglutaminemia,
Hypoargininemia,
Intellectual disability,
Irritability,
Lethargy,
Oroticaciduria,
Protein avoidance,
Respiratory alkalosis,
Seizure,
Short stature,
Trichorrhexis nodosa,
Vomiting
[+]
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Mouse (22 sources):
abnormal dermal layer morphology,
abnormal food intake,
abnormal hair follicle morphology,
abnormal myocardial fiber morphology,
abnormal nitric oxide homeostasis,
abnormal renal glomerulus morphology,
decreased circulating alanine transaminase level,
decreased circulating aspartate transaminase level,
decreased spleen germinal center number,
decreased vasodilation,
epidermal atrophy,
homeostasis/metabolism phenotype,
increased circulating citrulline level,
increased macrophage cell number,
increased spleen red pulp amount,
increased systemic arterial diastolic blood pressure,
increased systemic arterial systolic blood pressure,
no abnormal phenotype detected,
postnatal lethality, complete penetrance,
premature death,
small hair follicles,
thymus cortex hypoplasia
[+]
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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.