| Monarch Ortholog Phenotypes
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Human (16 sources):
Blue sclerae,
Cerebellar atrophy,
Cupped ear,
Downslanted palpebral fissures,
Epicanthus,
Everted lower lip vermilion,
Global developmental delay,
Intellectual disability,
Joint hypermobility,
Low-set ears,
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Mouse (30 sources):
abnormal T cell differentiation,
abnormal axon morphology,
abnormal common lymphocyte progenitor cell morphology,
abnormal dendritic cell differentiation,
abnormal erythropoiesis,
abnormal excitatory postsynaptic currents,
abnormal hematopoietic stem cell physiology,
abnormal hemoglobin content,
abnormal immunoglobulin heavy chain V(D)J recombination,
abnormal neurite morphology,
abnormal neuron differentiation,
abnormal sensory neuron innervation pattern,
abnormal spinal cord dorsal horn morphology,
absent CD4-positive, alpha beta T cells,
absent lymphocyte,
decreased DN2 thymocyte number,
decreased circulating interferon-alpha level,
decreased hematopoietic stem cell number,
decreased immature B cell number,
decreased plasmacytoid dendritic cell number,
decreased pre-B cell number,
decreased pro-B cell number,
hematopoietic system phenotype,
increased B cell apoptosis,
increased CD8-positive, alpha-beta T cell number,
increased double-negative T cell number,
increased gamma-delta T cell number,
neonatal lethality, complete penetrance,
nervous system phenotype,
small thymus
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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.