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Symbol Name ID |
Nipbl
NIPBL cohesin loading factor MGI:1913976 |
| * | Aspects of the system are reported to show a normal phenotype. |
| Darker colors indicate more annotations |
| Human Phenotypes | Low posterior hairline |
Increased nuchal translucency |
Short neck |
Duplication of internal organs |
Hiatus hernia |
Inguinal hernia |
Abnormal umbilicus morphology |
Delayed puberty |
Congenital diaphragmatic hernia |
Short stature |
Failure to thrive |
Truncal obesity |
Intrauterine growth retardation |
Severe postnatal growth retardation |
| Disease(s) Associated with NIPBL | ||||||||||||||
| Cornelia de Lange syndrome | ||||||||||||||
| Cornelia de Lange syndrome 1 |
| Mouse Phenotypes | abnormal pharyngeal arch mesenchyme morphology |
face hypoplasia |
midface hypoplasia |
abnormal upper lip morphology |
eclabion |
upturned snout |
shortened head |
lowered ear position |
decreased embryo size |
decreased embryo weight |
growth/size/body region phenotype |
decreased birth body size |
decreased body weight |
abnormal head morphology |
microcephaly |
decreased body size |
abnormal postnatal growth |
postnatal growth retardation |
decreased fetal size |
decreased fetal weight |
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| Availability | Mouse Genotype | ||||||||||||||||||||
| NipblGt(EUCE313f02)1.2Hmgu/Nipbl+ | |||||||||||||||||||||
| NipblGt(EUCE313f02)Hmgu/Nipbl+ | |||||||||||||||||||||
| NipblGt(RRS564)Byg/Nipbl+ | |||||||||||||||||||||
| Nipbltm1.2Hpt/Nipbl+ | |||||||||||||||||||||
| Nipbltm1.1Hpt/Nipbltm1.1Hpt H2az2Tg(Wnt1-cre)11Rth/H2az2+ (conditional) |
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| NipblGt(EUCE313f02)1.1Hmgu/Nipbl+ Tg(Tnnt2-cre)5Blh/0 (conditional) |
* | ||||||||||||||||||||
| NipblGt(EUCE313f02)1.1Hmgu/Nipbl+ Sox17tm2.1(icre)Heli/Sox17+ (conditional) |
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| NipblGt(EUCE313f02)Hmgu/Nipbl+ Tg(Tnnt2-cre)5Blh/0 (conditional) |
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| NipblGt(EUCE313f02)Hmgu/Nipbl+ Sox17tm2.1(icre)Heli/Sox17+ (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 04/23/2024 MGI 6.23 |
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