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Symbol
Name
ID
Nipbl
NIPBL cohesin loading factor
MGI:1913976
Phenotype annotations related to hearing/vestibular/ear
Darker colors indicate more annotations
Human Phenotypes
Sensorineural hearing impairment
Conductive hearing impairment
Otitis media
Low-set ears
Abnormal incisura morphology
Disease(s) Associated with NIPBL
Cornelia de Lange syndrome 1

Mouse Phenotypes
lowered ear position
abnormal auditory brainstem response
abnormal auditory brainstem response waveform shape
Availability Mouse Genotype
NipblGt(RRS564)Byg/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