|
Symbol Name ID |
Tmem67
transmembrane protein 67 MGI:1923928 |
| ! | Indicates phenotype varies with strain background. |
| Darker colors indicate more annotations |
| Human Phenotypes | Dandy-Walker malformation |
Encephalocele |
Occipital encephalocele |
Abnormality of the sense of smell |
Aganglionic megacolon |
Oculomotor apraxia |
Photophobia |
Spasticity |
Elongated superior cerebellar peduncle |
Thickened superior cerebellar peduncle |
Hypoplasia of the brainstem |
Dilated fourth ventricle |
Hydrocephalus |
Ventriculomegaly |
Enlarged fossa interpeduncularis |
Aplasia/Hypoplasia of the corpus callosum |
Aplasia/Hypoplasia of the cerebellar vermis |
Cerebellar vermis hypoplasia |
Aplasia/Hypoplasia of the cerebellum |
Molar tooth sign on MRI |
Abnormality of neuronal migration |
Ataxia |
Tremor |
Abnormality of speech or vocalization |
Delayed speech and language development |
Nasal dysarthria |
Depression |
Emotional lability |
Anxiety |
Atypical behavior |
Autism |
Polydipsia |
Motor stereotypy |
Cognitive impairment |
Short attention span |
Intellectual disability |
Intellectual disability, moderate |
Hyperreflexia |
Dystonia |
Gait disturbance |
Neurodevelopmental delay |
Global developmental delay |
Specific learning disability |
Seizure |
| Disease(s) Associated with TMEM67 | ||||||||||||||||||||||||||||||||||||||||||||
| Bardet-Biedl syndrome | ||||||||||||||||||||||||||||||||||||||||||||
| Bardet-Biedl syndrome 14 | ||||||||||||||||||||||||||||||||||||||||||||
| COACH syndrome | ||||||||||||||||||||||||||||||||||||||||||||
| coloboma | ||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome 6 | ||||||||||||||||||||||||||||||||||||||||||||
| Meckel syndrome 3 | ||||||||||||||||||||||||||||||||||||||||||||
| nephronophthisis 11 |
| Mouse Phenotypes | abnormal brain ependyma motile cilium morphology |
abnormal neural tube morphology |
abnormal embryonic neuroepithelium morphology |
incomplete rostral neuropore closure |
meningocele |
abnormal neural tube ventricular layer morphology |
abnormal roof plate morphology |
abnormal nervous system morphology |
abnormal forebrain development |
abnormal midbrain development |
semilobar holoprosencephaly |
decreased forebrain size |
increased forebrain size |
decreased hindbrain size |
dilated fourth ventricle |
abnormal corpus callosum morphology |
absent anterior commissure |
abnormal tegmentum morphology |
abnormal basal ganglion morphology |
enlarged hippocampus |
cerebellum vermis hypoplasia |
small cerebellum |
exencephaly |
encephalomeningocele |
|
| Availability | Mouse Genotype | ||||||||||||||||||||||||
| Tmem67tm1Dgen/Tmem67tm1Dgen | ! | ||||||||||||||||||||||||
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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