Symbol
Name
ID

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

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes

Calvarial skull defect

Micrognathia

Microcephaly

Macrocephaly

Encephalocele

Absent distal phalanges

Short distal phalanx of finger

Short middle phalanx of finger

Aplasia of the middle phalanx of the 4th toe

Absent middle phalanx of the 3rd toe

Aplasia of the distal phalanges of the toes

Absent toe

Short toe

Short 5th toe

Toe syndactyly

2-3 toe syndactyly

Brachydactyly

Syndactyly

Finger syndactyly

Short metatarsal

Abnormal metacarpal morphology

Absent hand

Short palm

Split hand

Disease(s) Associated with RBPJ

Adams-Oliver syndrome

Mouse Phenotypes		skeleton phenotype	decreased bone mineral density
Availability	Mouse Genotype	skeleton phenotype	decreased bone mineral density
	Rbpj^{tm1b(EUCOMM)Hmgu}/Rbpj⁺
	Rbpj^tm1Hon/Rbpj^tm1Hon Tg(Col1a1-cre)1Kry/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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