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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Nipbl
NIPBL cohesin loading factor
MGI:1913976
20 phenotypes from multigenic genotypes
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Allelic Composition
Genetic Background		 Annotated Term Reference
Eif2ak2tm1Cwe/Eif2ak2tm1Cwe
NipblGt(RRS564)Byg/Nipbl+
involves: 129/Sv * 129P2/OlaHsd * C57BL/6J * CD-1 		abnormal bone ossification J:297059
abnormal chromosome number J:297059
abnormal DNA repair J:297059
abnormal placenta junctional zone morphology J:297059
abnormal spongiotrophoblast cell morphology J:297059
abnormal trophoblast glycogen cell morphology J:297059
postnatal lethality, incomplete penetrance J:297059
Mau2tm1.1Hpt/Mau2tm1.1Hpt
Nipbltm1.1Hpt/Nipbl+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL 		short mandible J:213338
Mau2tm1.1Hpt/Mau2tm1.1Hpt
Nipbltm1.1Hpt/Nipbltm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/H2az2+
involves: 129S2/SvPas * C57BL/6 * C57BL/6J * CBA/J * SJL 		abnormal craniofacial development J:213338
abnormal cranium morphology J:213338
abnormal jaw morphology J:213338
eyelids open at birth J:213338
face hypoplasia J:213338
lowered ear position J:213338
short mandible J:213338
NipblGt(EUCE313f02)1.2Hmgu/Nipbl+
Wapltm1.1Kpfe/Wapltm1.2Kpfe
involves: 129 * C57BL/6J * FVB/N 		abnormal embryo size J:331699
preweaning lethality, complete penetrance J:331699
NipblGt(EUCE313f02)1.2Hmgu/Nipbl+
Wapltm1.2Kpfe/Wapl+
involves: 129 * C57BL/6J * FVB/N 		abnormal embryo size J:331699
preweaning lethality, complete penetrance J:331699
NipblGt(RRS564)Byg/Nipbl+
Nkx2-5tm1(cre)Rjs/Nkx2-5+
involves: 129P2/OlaHsd * 129S7/SvEvBrd * CD-1 		abnormal heart morphology J:236978
atrial septal defect J:236978
persistent truncus arteriosus J:236978
ventricular septal defect J:236978
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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory