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Symbol
Name
ID
Nipbl
NIPBL cohesin loading factor
MGI:1913976
Phenotype annotations related to vision/eye
Darker colors indicate more annotations
Human Phenotypes
Blepharitis
Microcornea
Astigmatism
Cataract
Optic atrophy
Optic disc coloboma
Proptosis
Phthisis bulbi
Strabismus
Nystagmus
Myopia
Glaucoma
Ptosis
Disease(s) Associated with NIPBL
Cornelia de Lange syndrome
Cornelia de Lange syndrome 1

Mouse Phenotypes
eye inflammation
abnormal eye morphology
abnormal eyelid morphology
eyelids open at birth
Availability Mouse Genotype
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