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Symbol Name ID |
Nipbl
NIPBL cohesin loading factor MGI:1913976 |
| Darker colors indicate more annotations |
| Human Phenotypes | Microcephaly |
Ventriculomegaly |
Cerebral cortical atrophy |
Aplasia/Hypoplasia of the cerebellum |
Abnormality of speech or vocalization |
Abnormally low-pitched voice |
Delayed speech and language development |
Anxiety |
Atypical behavior |
Autism |
Compulsive behaviors |
Attention deficit hyperactivity disorder |
Self-injurious behavior |
Intellectual disability |
Intellectual disability, severe |
Sleep abnormality |
Peripheral neuropathy |
Seizure |
| Disease(s) Associated with NIPBL | ||||||||||||||||||
| Cornelia de Lange syndrome | ||||||||||||||||||
| Cornelia de Lange syndrome 1 |
| Mouse Phenotypes | decreased brain size |
decreased corpus callosum size |
absent corpus callosum |
abnormal cerebellum morphology |
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| Availability | Mouse Genotype | ||||
| NipblGt(RRS564)Byg/Nipbl+ | |||||
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 04/23/2024 MGI 6.23 |
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