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Symbol
Name
ID
Nipbl
NIPBL cohesin loading factor
MGI:1913976
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Elbow flexion contracture
Clinodactyly of the 5th finger
Proximal placement of thumb
Hand oligodactyly
2-3 toe syndactyly
Hypoplasia of the radius
Dislocated radial head
Hypoplastic radial head
Single transverse palmar crease
Limited elbow extension
Micromelia
Phocomelia
Disease(s) Associated with NIPBL
Cornelia de Lange syndrome 1

Mouse Phenotypes
brachydactyly
short humerus
short radius
Availability Mouse Genotype
NipblGt(RRS564)Byg/Nipbl+
Nipbltm1.2Hpt/Nipbl+

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