About   Help   FAQ
Symbol
Name
ID
Cc2d1a
coiled-coil and C2 domain containing 1A
MGI:2384831
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Postnatal microcephaly
Hypertonia
Spasticity
Delayed myelination
Lissencephaly
Pachygyria
Polymicrogyria
Cortical dysplasia
Large basal ganglia
Hypoplasia of the corpus callosum
Absent septum pellucidum
Cerebral atrophy
Megalencephaly
Cerebellar hypoplasia
Babinski sign
EEG with focal epileptiform discharges
Multifocal epileptiform discharges
EEG with generalized epileptiform discharges
Hypsarrhythmia
Cognitive impairment
Intellectual disability
Intellectual disability, mild
Intellectual disability, moderate
Intellectual disability, progressive
Intellectual disability, severe
Absent speech
Dysarthria
Echolalia
Incomprehensible speech
Poor speech
Hyperreflexia
Hyperactive deep tendon reflexes
Dyskinesia
Dystonia
Unsteady gait
Hyperactivity
Attention deficit hyperactivity disorder
Involuntary movements
Chorea
Myoclonus
Stereotypy
Recurrent hand flapping
Tremor
Aggressive behavior
Self-mutilation
Autistic behavior
Diminished ability to concentrate
Anxiety
Depressivity
Impulsivity
Short attention span
Sleep disturbance
Bruxism
Delayed speech and language development
Global developmental delay
Motor delay
Delayed ability to walk
Seizure
Focal-onset seizure
Generalized-onset seizure
Febrile seizure (within the age range of 3 months to 6 years)
Epileptic spasm
Disease(s) Associated with CC2D1A
autosomal recessive non-syndromic intellectual disability

Mouse Phenotypes
abnormal brain vasculature morphology
decreased CNS synapse formation
abnormal dendrite morphology
abnormal neuron physiology
abnormal synaptic vesicle recycling
abnormal excitatory postsynaptic currents
abnormal inhibitory postsynaptic currents
abnormal miniature inhibitory postsynaptic currents
Availability Mouse Genotype
Cc2d1atm1Bisu/Cc2d1atm1Bisu
Cc2d1atm1Zjc/Cc2d1atm1Zjc

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 & Copyright Notice
Send questions and comments to User Support.
last database update
06/30/2020
MGI 6.15
The Jackson Laboratory