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Symbol
Name
ID 		Nipbl
NIPBL cohesin loading factor
MGI:1913976
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Brachycephaly
Micrognathia
Microcephaly
Short neck
Clinodactyly of the 5th finger
Short 1st metacarpal
Proximal placement of thumb
Finger aplasia
Toe syndactyly
2-3 toe syndactyly
Oligodactyly
Short foot
Dislocated radial head
Hypoplastic radial head
Hypoplasia of the radius
Radioulnar synostosis
Abnormal morphology of ulna
Small hand
Hip dislocation
Elbow dislocation
Elbow flexion contracture
Limited elbow extension
Micromelia
Phocomelia
Joint stiffness
Delayed skeletal maturation
Hip dysplasia
Supernumerary ribs
Short sternum
Pectus excavatum
Disease(s) Associated with NIPBL
Cornelia de Lange syndrome
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
short humerus
short radius
abnormal skeleton morphology
decreased length of long bones
abnormal sternum ossification
abnormal rib morphology
delayed endochondral bone ossification
delayed intramembranous bone ossification
decreased bone ossification
delayed bone ossification
Availability Mouse Genotype
NipblGt(RRS564)Byg/Nipbl+
Nipbltm1.2Hpt/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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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory