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Symbol
Name
ID
Esco2
establishment of sister chromatid cohesion N-acetyltransferase 2
MGI:1919238
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Microcephaly
Frontal encephalocele
Hydrocephalus
Cranial nerve paralysis
Intellectual disability
Global developmental delay
Seizures
Disease(s) Associated with ESCO2
Roberts syndrome
SC phocomelia syndrome

Mouse Phenotypes
increased neuron apoptosis
abnormal neuronal precursor proliferation
abnormal embryonic neuroepithelium morphology
abnormal hippocampus development
absent hippocampus
abnormal neocortex morphology
Availability Mouse Genotype
Emx1tm1(cre)Krj/Emx1+
Esco2tm1.1Ge/Esco2tm1.1Ge  (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
11/05/2019
MGI 6.14
The Jackson Laboratory