Symbol
Name
ID

Rbpj
recombination signal binding protein for immunoglobulin kappa J region
MGI:96522

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 RBPJ

Adams-Oliver syndrome

Mouse Phenotypes		abnormal neuron differentiation	abnormal neural tube morphology	abnormal melanoblast morphology	loss of GABAergic neurons	abnormal glutaminergic neuron morphology	decreased neuronal precursor cell number	abnormal dorsal interneuron 4 morphology
Availability	Mouse Genotype	abnormal neuron differentiation	abnormal neural tube morphology	abnormal melanoblast morphology	loss of GABAergic neurons	abnormal glutaminergic neuron morphology	decreased neuronal precursor cell number	abnormal dorsal interneuron 4 morphology
	Pax3^tm1(cre)Joe/Pax3⁺ Rbpj^tm1Hon/Rbpj^tm1Hon (conditional)
	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Tyr-cre)#Lru/0 (conditional)
	Rbpj^tm1Hon/Rbpj^tm1.1Hon Tg(Pax7-cre/ERT2)1Cbm/0 (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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23