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Summary Expression Phenotypes Gene Literature (3) GO Terms (5) Nucleotides (170) Proteins (43) Interactants (70) Wiki
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.
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.
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.
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