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XB-GENEPAGE-968671
smchd1 structural maintenance of chromosomes flexible hinge domain containing 1
Anatomical Phenotypes
Phenotypes manually curated with terms from the Xenopus phenotype ontology
covering anatomical, gene ontology, and neurobehavioral phenotypes.
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absent eye (5 sources), decreased size of the eye (5 sources), abnormal eye (1 source), abnormal head (1 source) |
Experiments (Reagents)
These are short form descriptions of experiments using reagents targeting
the gene of interest.
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Xla Wt + Hsa.SMCHD1R552Q (2 sources), Xla Wt + Hsa.SMCHD1G137E (1 source), Xla Wt + Hsa.SMCHD1N524S (1 source), Xla Wt + Hsa.SMCHD1W342S (1 source), Xla Wt + smchd1 (1 source) |
Monarch Ortholog Phenotypes
These phenotypes are associated with this gene with a has phenotype relation via Monarch.
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Human (57 sources): Abdominal wall muscle weakness, Abnormal cardiovascular system morphology, Abnormal eyelash morphology, Abnormal retinal vascular morphology, Abnormality of the midface, Absent nares, Agenesis of permanent teeth, Amblyopia, Anophthalmia, Anosmia, [+] |
Mouse (7 sources): abnormal DNA methylation, abnormal imprinting, abnormal maternal decidual layer morphology, abnormal trophoblast giant cell morphology, abnormal trophoblast layer morphology, embryonic lethality during organogenesis, incomplete penetrance, prenatal lethality, incomplete penetrance |
View all ortholog results at Monarch |