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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Nipbl
NIPBL cohesin loading factor
MGI:1913976
88 phenotypes from 6 alleles in 11 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
H2az2Tg(Wnt1-cre)11Rth/H2az2+
NipblGt(EUCE313f02)1.1Hmgu/Nipbl+
involves: 129P2/OlaHsd * C57BL/6J * CBA/J * CD-1 		normal cardiovascular system phenotype J:236978
NipblGt(EUCE313f02)1.1Hmgu/Nipbl+
Tg(Tnnt2-cre)5Blh/0
involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA/2 		atrial septal defect J:236978
normal cardiovascular system phenotype J:236978
normal growth/size/body region phenotype J:236978
NipblGt(EUCE313f02)1.1Hmgu/Nipbl+
Foxa2tm1(cre)Heli/Foxa2+
involves: 129P2/OlaHsd * 129S2/SvPas * CD-1 		atrial septal defect J:236978
NipblGt(EUCE313f02)1.1Hmgu/Nipbl+
Sox17tm2.1(icre)Heli/Sox17+
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * CD-1 		atrial septal defect J:236978
cardiovascular system phenotype J:236978
growth/size/body region phenotype J:236978
NipblGt(EUCE313f02)1.1Hmgu/Nipbl+
Tg(Nanog-cre)#Vlcg/0
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6NTac * CD-1 		atrial septal defect J:236978
NipblGt(EUCE313f02)1.2Hmgu/Nipbl+
involves: 129 * C57BL/6J * FVB/N 		decreased embryo size J:331699
NipblGt(EUCE313f02)1.2Hmgu/Nipbl+
involves: 129P2/OlaHsd * CD-1 		decreased body size J:236978
ostium secundum atrial septal defect J:236978
preweaning lethality, incomplete penetrance J:236978
small heart J:236978
NipblGt(EUCE313f02)Hmgu/Nipbl+
involves: 129P2/OlaHsd * CD-1 		decreased body size J:236978
ostium secundum atrial septal defect J:236978
preweaning lethality, incomplete penetrance J:236978
small heart J:236978
NipblGt(EUCE313f02)Hmgu/Nipbl+
Tg(Tnnt2-cre)5Blh/0
involves: 129P2/OlaHsd * C57BL/6 * CD-1 * DBA/2 		cardiovascular system phenotype J:236978
decreased body size J:236978
small heart J:236978
NipblGt(EUCE313f02)Hmgu/Nipbl+
Sox17tm2.1(icre)Heli/Sox17+
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6J * CD-1 		cardiovascular system phenotype J:236978
decreased body size J:236978
small heart J:236978
NipblGt(EUCE313f02)Hmgu/Nipbl+
Tg(Nanog-cre)#Vlcg/0
involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6NTac * CD-1 		normal cardiovascular system phenotype J:236978
NipblGt(RRS564)Byg/Nipbl+
involves: 129P2/OlaHsd * C57BL/6J * CD-1 		abnormal chemokine level J:297059
abnormal chromosome number J:297059
abnormal DNA repair J:297059
abnormal placenta junctional zone morphology J:297059
abnormal placenta labyrinth morphology J:297059
abnormal placenta physiology J:297059
abnormal spongiotrophoblast cell morphology J:297059
decreased bone ossification J:297059
decreased embryo weight J:297059
increased placenta weight J:297059
postnatal lethality, incomplete penetrance J:297059
NipblGt(RRS564)Byg/Nipbl+
involves: 129P2/OlaHsd * CD-1 		abnormal auditory brainstem response J:154117
abnormal auditory brainstem response waveform shape J:154117
abnormal behavioral response to anesthetic J:154117
abnormal cell differentiation J:154117
abnormal cerebellum morphology J:154117
abnormal craniofacial bone morphology J:154117
abnormal eye morphology J:154117
abnormal eyelid morphology J:154117
abnormal head morphology J:154117
abnormal heart morphology J:154117
abnormal heart septum morphology J:154117
abnormal inflammatory response J:154117
abnormal interventricular septum morphology J:236978
abnormal myocardium compact layer morphology J:154117
abnormal neurocranium morphology J:154117
abnormal postnatal growth J:154117
abnormal sphenoid bone morphology J:154117
abnormal ventricle myocardium morphology J:154117
absent corpus callosum J:154117
atrial septal defect J:154117
brachydactyly J:154117
normal cardiovascular system phenotype J:154117
circling J:154117
decreased birth body size J:154117
decreased body weight J:154117
decreased brain size J:154117
decreased brown adipose tissue amount J:154117
decreased corpus callosum size J:154117
decreased fetal size J:154117
decreased fetal weight J:154117
decreased heart right ventricle size J:236978
decreased length of long bones J:154117
decreased white adipose tissue amount J:154117
delayed endochondral bone ossification J:154117
delayed intramembranous bone ossification J:154117
eye inflammation J:154117
heart atrium hypoplasia J:154117
limb grasping J:154117
microcephaly J:154117
midface hypoplasia J:154117
postnatal growth retardation J:154117
postnatal lethality J:154117
premature death J:154117
shortened head J:154117
small ethmoid bone J:154117
upturned snout J:154117
ventricular septal defect J:154117
Nipbltm1.1Hpt/Nipbltm1.1Hpt
involves: 129S2/SvPas * C57BL/6 * SJL 		no abnormal phenotype detected J:213338
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
abnormal pharyngeal arch mesenchyme morphology J:213338
abnormal upper lip morphology J:213338
decreased cranial neural crest cell proliferation J:213338
eclabion J:213338
eyelids open at birth J:213338
face hypoplasia J:213338
lowered ear position J:213338
mandible hypoplasia J:213338
maxilla hypoplasia J:213338
short mandible J:213338
small mandible J:213338
upturned snout J:213338
Nipbltm1.2Hpt/Nipbl+
involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL 		abnormal neurocranium morphology J:213338
abnormal rib morphology J:213338
abnormal skeleton morphology J:213338
abnormal sternum ossification J:213338
decreased birth body size J:213338
decreased body size J:213338
decreased body weight J:213338
decreased fetal weight J:213338
delayed bone ossification J:213338
short humerus J:213338
short radius J:213338
Nipbltm1.2Hpt/Nipbltm1.2Hpt
involves: 129S2/SvPas * BALB/c * C57BL/6 * SJL 		embryonic lethality during organogenesis, complete penetrance J:213338
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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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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory