|
Symbol Name ID |
Nipbl
NIPBL cohesin loading factor MGI:1913976 |
| Darker colors indicate more annotations |
| Human Phenotypes | 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 |
Talipes |
Hip dislocation |
Single transverse palmar crease |
Bilateral single transverse palmar creases |
Elbow dislocation |
Elbow flexion contracture |
Limited elbow extension |
Micromelia |
Phocomelia |
| Disease(s) Associated with NIPBL | |||||||||||||||||||||||
| Cornelia de Lange syndrome | |||||||||||||||||||||||
| Cornelia de Lange syndrome 1 |
| Mouse Phenotypes | brachydactyly |
short humerus |
short radius |
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| Availability | Mouse Genotype | |||
| NipblGt(RRS564)Byg/Nipbl+ | ||||
| Nipbltm1.2Hpt/Nipbl+ | ||||
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 04/16/2024 MGI 6.23 |
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