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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	Otitis media	Conductive hearing impairment	Atresia of the external auditory canal	Abnormal incisura morphology	Low-set ears	Low-set, posteriorly rotated ears	Macrotia	Sensorineural hearing impairment
Disease(s) Associated with NIPBL	Otitis media	Conductive hearing impairment	Atresia of the external auditory canal	Abnormal incisura morphology	Low-set ears	Low-set, posteriorly rotated ears	Macrotia	Sensorineural hearing impairment
Cornelia de Lange syndrome
Cornelia de Lange syndrome 1

Mouse Phenotypes		lowered ear position	abnormal auditory brainstem response	abnormal auditory brainstem response waveform shape
Availability	Mouse Genotype	lowered ear position	abnormal auditory brainstem response	abnormal auditory brainstem response waveform shape
	Nipbl^{Gt(RRS564)Byg}/Nipbl⁺
	Nipbl^tm1.1Hpt/Nipbl^tm1.1Hpt H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺ (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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