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Symbol
Name
ID
Notch1
notch 1
MGI:97363
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Encephalocele
Lateral ventricle dilatation
Hydrocephalus
Ventriculomegaly
Pachygyria
Polymicrogyria
Cortical dysplasia
Hypoplasia of the corpus callosum
Periventricular leukomalacia
Cerebral atrophy
Porencephalic cyst
Cerebellar hypoplasia
Retrocerebellar cyst
Hemiparesis
EEG abnormality
Delayed speech and language development
Intellectual disability
Intellectual disability, mild
Global developmental delay
Severe global developmental delay
Delayed gross motor development
Seizure
Disease(s) Associated with NOTCH1
Adams-Oliver syndrome

Mouse Phenotypes
abnormal embryonic neuroepithelium morphology
kinked neural tube
neural tube degeneration
increased cochlear inner hair cell number
increased cochlear outer hair cell number
abnormal nervous system development
increased neuron number
abnormal trigeminal ganglion morphology
Availability Mouse Genotype
Notch1sot/Notch1sot
Notch1tm1Con/Notch1tm1Con
Notch1tm1Rko/Notch1tm1Rko
Notch1tm1Grid/Notch1+
Notch1tm2Pst/Notch1tm2.1Pst
Notch1tm1Agt/Notch1tm1Agt
Tg(Tek-cre)1Ywa/0  (conditional)
Notch1tm1Agt/Notch1tm1Agt
Tg(Tek-cre)12Flv/0  (conditional)
Notch1tm2Rko/Notch1tm2Rko
Tg(Nes-cre)1Kln/0  (conditional)
Notch1tm1Grid/Notch1tm2Rko
Foxg1tm1(cre)Skm/Foxg1+  (conditional)

Contributing Projects:
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
05/14/2024
MGI 6.23
The Jackson Laboratory