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Symbol
Name
ID
Specc1l
sperm antigen with calponin homology and coiled-coil domains 1-like
MGI:1921642
Phenotype annotations related to nervous system
Darker colors indicate more annotations
Human Phenotypes
Dysphagia
Agenesis of corpus callosum
Cavum septum pellucidum
Cerebral cortical atrophy
Aplasia/Hypoplasia of the cerebellar vermis
Cerebellar vermis hypoplasia
Ventriculomegaly
Intellectual disability
Global developmental delay
Disease(s) Associated with SPECC1L
Opitz-GBBB syndrome

Mouse Phenotypes
abnormal neural tube closure
Availability Mouse Genotype
Specc1lGt(DTM096)Byg/Specc1lGt(DTM096)Byg
Specc1lGt(RRH048)Byg/Specc1lGt(RRH048)Byg
Specc1lGt(DTM096)Byg/Specc1lGt(RRH048)Byg

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
02/11/2020
MGI 6.14
The Jackson Laboratory