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Symbol
Name
ID
Nipbl
NIPBL cohesin loading factor
MGI:1913976
Phenotype annotations related to embryo
Darker colors indicate more annotations
Human Phenotypes
Increased nuchal translucency
Prenatal movement abnormality
Disease(s) Associated with NIPBL
Cornelia de Lange syndrome

Mouse Phenotypes
decreased cranial neural crest cell proliferation
abnormal pharyngeal arch mesenchyme morphology
decreased embryo size
decreased embryo weight
abnormal placenta junctional zone morphology
abnormal spongiotrophoblast cell morphology
abnormal placenta labyrinth morphology
increased placenta weight
abnormal placenta physiology
Availability Mouse Genotype
NipblGt(EUCE313f02)1.2Hmgu/Nipbl+
NipblGt(RRS564)Byg/Nipbl+
Nipbltm1.1Hpt/Nipbltm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/H2az2+  (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
04/23/2024
MGI 6.23
The Jackson Laboratory