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XB-GENEPAGE-968671
smchd1 structural maintenance of chromosomes flexible hinge domain containing 1
Anatomical Phenotypes
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absent eye (5 sources), decreased size of the eye (5 sources), abnormal eye (1 source), abnormal head (1 source), abnormal nasal region (1 source), abnormal olfactory placode (1 source), decreased size of the head (1 source) |
Diseases
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choanal atresia (1AP source), microphthalmia (1AP source) |
Experiments (Reagents)
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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
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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 |