|
Symbol Name ID |
Emc1
ER membrane protein complex subunit 1 MGI:2443696 |
| Darker colors indicate more annotations |
| Human Phenotypes | Secondary microcephaly |
Progressive microcephaly |
Abnormality of visual evoked potentials |
Hypoplasia of the corpus callosum |
Corpus callosum atrophy |
Cerebral atrophy |
Cerebellar atrophy |
Diffuse cerebellar atrophy |
Brain atrophy |
EEG abnormality |
Delayed speech and language development |
Intellectual disability |
Intellectual disability, profound |
Hyporeflexia |
Dystonia |
Dystonic gait |
Global developmental delay |
Seizure |
| Disease(s) Associated with EMC1 | ||||||||||||||||||
| cerebellar atrophy, visual impairment, and psychomotor retardation |
| Mouse Phenotypes | decreased retina cone cell number |
abnormal photoreceptor outer segment morphology |
short photoreceptor outer segment |
disorganized photoreceptor outer segment |
photoreceptor outer segment degeneration |
abnormal retina cone cell morphology |
retina cone cell degeneration |
retina photoreceptor degeneration |
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| Availability | Mouse Genotype | ||||||||
| Emc1em1Xjz/Emc1em1Xjz Tg(OPN1LW-cre)4Yzl/0 (conditional) |
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| Emc1em1Xjz/Emc1em1Xjz Tg(Rho-icre)1Ck/0 (conditional) |
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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