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Symbol
Name
ID
Nipbl
NIPBL cohesin loading factor
MGI:1913976
Phenotype annotations related to growth/size/body
Darker colors indicate more annotations
Human Phenotypes
Congenital diaphragmatic hernia
Inguinal hernia
Hiatus hernia
Low posterior hairline
Short neck
Duplication of internal organs
Abnormal umbilicus morphology
Short stature
Intrauterine growth retardation
Disease(s) Associated with NIPBL
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 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
Availability Mouse Genotype
NipblGt(RRS564)Byg/Nipbl+
Nipbltm1.2Hpt/Nipbl+
Nipbltm1.1Hpt/Nipbltm1.1Hpt
H2az2Tg(Wnt1-cre)11Rth/0  (conditional)

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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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory