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Symbol
Name
ID
Nipbl
NIPBL cohesin loading factor
MGI:1913976
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Micrognathia
Microcephaly
Brachycephaly
Long philtrum
Thin upper lip vermilion
Cleft upper lip
Cleft palate
High palate
High, narrow palate
Downturned corners of mouth
Delayed eruption of teeth
Widely spaced teeth
Anteverted nares
Choanal atresia
Depressed nasal bridge
Highly arched eyebrow
Synophrys
Curly eyelashes
Long eyelashes
Low posterior hairline
Disease(s) Associated with NIPBL
Cornelia de Lange syndrome 1

Mouse Phenotypes
abnormal craniofacial bone morphology
abnormal cranium morphology
abnormal neurocranium morphology
abnormal sphenoid bone morphology
small ethmoid bone
abnormal jaw morphology
small mandible
mandible hypoplasia
short mandible
maxilla hypoplasia
abnormal craniofacial development
abnormal pharyngeal arch mesenchyme morphology
face hypoplasia
midface hypoplasia
abnormal upper lip morphology
eclabion
upturned snout
shortened head
lowered ear position
Availability Mouse Genotype
NipblGt(RRS564)Byg/Nipbl+
Nipbltm1.2Hpt/Nipbl+
Nipbltm1.1Hpt/Nipbltm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/0  (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
10/08/2019
MGI 6.14
The Jackson Laboratory