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Symbol Name ID |
Nipbl
NIPBL cohesin loading factor MGI:1913976 |
| Darker colors indicate more annotations |
| Human Phenotypes | Low anterior hairline |
Low posterior hairline |
Brachycephaly |
Micrognathia |
Microcephaly |
Long philtrum |
Thin upper lip vermilion |
Cleft upper lip |
Thin vermilion border |
Cleft palate |
High palate |
High, narrow palate |
Downturned corners of mouth |
Delayed eruption of teeth |
Widely spaced teeth |
Choanal atresia |
Anteverted nares |
Depressed nasal bridge |
Short nose |
Highly arched eyebrow |
Synophrys |
Thick eyebrow |
Curly eyelashes |
Long eyelashes |
Blepharitis |
| 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 |
abnormal craniofacial development |
abnormal pharyngeal arch mesenchyme morphology |
face hypoplasia |
midface hypoplasia |
abnormal upper lip morphology |
eclabion |
upturned snout |
shortened head |
lowered ear position |
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| Availability | Mouse Genotype | |||||||||||||||||||
| NipblGt(RRS564)Byg/Nipbl+ | ||||||||||||||||||||
| Nipbltm1.2Hpt/Nipbl+ | ||||||||||||||||||||
| Nipbltm1.1Hpt/Nipbltm1.1Hpt H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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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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