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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
Clinodactyly of the 5th finger
Short 1st metacarpal
Proximal placement of thumb
Toe syndactyly
Oligodactyly
Short foot
Radioulnar synostosis
Abnormal morphology of ulna
Small hand
Talipes
Hip dislocation
Bilateral single transverse palmar creases
Elbow dislocation
Micromelia
Disease(s) Associated with NIPBL
Cornelia de Lange syndrome

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
07/02/2024
MGI 6.13
The Jackson Laboratory