| Monarch Ortholog Phenotypes
|
Human (25 sources):
Abnormal cerebral white matter morphology,
Abnormality of the dentition,
Abnormality of the pinna,
Arachnodactyly,
Broad forehead,
Cryptorchidism,
Delayed myelination,
Delayed speech and language development,
Downslanted palpebral fissures,
Dystonia,
Facial asymmetry,
Feeding difficulties,
Global developmental delay,
Intellectual disability,
Intrauterine growth retardation,
Joint laxity,
Malar flattening,
Periorbital fullness,
Pointed chin,
Posteriorly rotated ears,
Strabismus,
Thick lower lip vermilion,
Tremor,
Ventriculomegaly,
Waddling gait
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Mouse (32 sources):
abnormal airway basal cell morphology,
abnormal branching involved in lung morphogenesis,
abnormal dorsoventral coat patterning,
abnormal hair follicle melanin granule morphology,
abnormal hair follicle melanocyte morphology,
abnormal lung development,
abnormal lung epithelium morphology,
abnormal lung-associated mesenchyme development,
abnormal melanoblast morphology,
abnormal respiratory epithelium physiology,
abnormal tracheal cartilage morphology,
abnormal tracheal ciliated epithelium morphology,
absent egg cylinders,
absent hair follicle melanin granules,
decreased birth body size,
decreased cell proliferation,
decreased club cell number,
decreased embryo size,
decreased melanocyte number,
decreased respiratory mucosa goblet cell number,
embryonic lethality, complete penetrance,
immune system phenotype,
impaired myofibroblast differentiation,
increased blastoma incidence,
increased lung apoptosis,
left pulmonary isomerism,
lethality at weaning, complete penetrance,
lethality throughout fetal growth and development, incomplete penetrance,
neonatal lethality, complete penetrance,
neonatal lethality, incomplete penetrance,
no abnormal phenotype detected,
prenatal lethality, incomplete penetrance
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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.