Symbol
Name
ID

Cc2d2a
coiled-coil and C2 domain containing 2A
MGI:1924487

Phenotype annotations related to nervous system

Darker colors indicate more annotations

Human Phenotypes

Encephalocele

Occipital encephalocele

Oculomotor apraxia

Photophobia

Hydrocephalus

Ventriculomegaly

Anencephaly

Molar tooth sign on MRI

Intellectual disability

Hyperreflexia

Global developmental delay

Seizure

Disease(s) Associated with CC2D2A

Joubert syndrome 9

Meckel syndrome 6

retinitis pigmentosa

Mouse Phenotypes		decreased embryonic neuroepithelium primary cilium number	abnormal kinocilium morphology	abnormal neural tube morphology	incomplete rostral neuropore closure	abnormal cochlear hair cell stereociliary bundle morphology	holoprosencephaly	hydrocephaly	exencephaly	abnormal photoreceptor inner segment morphology	abnormal photoreceptor outer segment morphology
Availability	Mouse Genotype	decreased embryonic neuroepithelium primary cilium number	abnormal kinocilium morphology	abnormal neural tube morphology	incomplete rostral neuropore closure	abnormal cochlear hair cell stereociliary bundle morphology	holoprosencephaly	hydrocephaly	exencephaly	abnormal photoreceptor inner segment morphology	abnormal photoreceptor outer segment morphology
	Cc2d2a^{Gt(AA0274)Wtsi}/Cc2d2a^{Gt(AA0274)Wtsi}
	Cc2d2a^tm1Asw/Cc2d2a^tm1Asw

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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