Symbol
Name
ID

Rbpj
recombination signal binding protein for immunoglobulin kappa J region
MGI:96522

Phenotype annotations related to integument

Darker colors indicate more annotations

Human Phenotypes

Low anterior hairline

Single transverse palmar crease

Supernumerary nipple

Cutis marmorata

Alopecia

Sparse hair

Hypoplastic fingernail

Hypoplastic fifth fingernail

Aplastic/hypoplastic toenail

Absent toenail

Hypoplastic toenails

Dystrophic toenail

Toenail dysplasia

Absent fingernail

Small nail

Aplasia/Hypoplasia of the skin

Aplasia cutis congenita

Aplasia cutis congenita over posterior parietal area

Aplasia cutis congenita on trunk or limbs

Cutis marmorata telangiectatica congenita

Disease(s) Associated with RBPJ

Adams-Oliver syndrome

Mouse Phenotypes		abnormal mammary gland growth during pregnancy	epidermal cyst	abnormal hair follicle melanocyte morphology	abnormal hair follicle melanogenesis	absent coat pigmentation	diluted coat color	premature hair loss	loss of vibrissae	hyperkeratosis	thick epidermis
Availability	Mouse Genotype	abnormal mammary gland growth during pregnancy	epidermal cyst	abnormal hair follicle melanocyte morphology	abnormal hair follicle melanogenesis	absent coat pigmentation	diluted coat color	premature hair loss	loss of vibrissae	hyperkeratosis	thick epidermis
	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Nes-cre)1Wme/0 (conditional)
	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(MMTV-cre)1Mam/0 (conditional)
	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Tyr-cre)2Lru/0 (conditional)
	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Tyr-cre)#Lru/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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/30/2024 MGI 6.23