|
Symbol Name ID |
Polrmt
polymerase (RNA) mitochondrial (DNA directed) MGI:1915843 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Ventriculomegaly |
Thin corpus callosum |
Absent speech |
Delayed speech and language development |
Intellectual disability |
Elevated brain lactate level by MRS |
Global developmental delay |
Mild global developmental delay |
Severe global developmental delay |
Focal-onset seizure |
| Disease(s) Associated with POLRMT | |||||||||||
| combined oxidative phosphorylation deficiency 55 |
| Mouse Phenotypes | abnormal brain morphology |
hydrocephaly |
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| Availability | Mouse Genotype | ||
| Polrmtem1(IMPC)Mbp/Polrmt+ | |||
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 04/23/2024 MGI 6.23 |
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