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Symbol
Name
ID

Mafb
MAF bZIP transcription factor B
MGI:104555

Phenotype annotations related to skeleton

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

Human Phenotypes

Plagiocephaly

Micrognathia

Hypoplasia of the maxilla

Microcephaly

Short neck

Camptodactyly of finger

Preaxial hand polydactyly

Triphalangeal thumb

Aplasia/Hypoplasia of the thumb

Brachydactyly

Metatarsal osteolysis

Osteolysis involving tarsal bones

Absent radius

Hypoplasia of the radius

Metacarpal osteolysis

Carpal osteolysis

Ankle swelling

Bilateral elbow dislocations

Abnormality of the wrist

Wrist swelling

Camptodactyly

Limitation of joint mobility

Abnormal vertebral segmentation and fusion

Ankle pain

Wrist pain

Abnormal epiphysis morphology

Slender long bone

Abnormal form of the vertebral bodies

Osteopenia

Osteolysis

Disease(s) Associated with MAFB

Duane retraction syndrome

multicentric carpotarsal osteolysis syndrome

Mouse Phenotypes		skeleton phenotype	abnormal bony labyrinth	abnormal hyoid bone greater horn morphology	ectopic bone
Availability	Mouse Genotype	skeleton phenotype	abnormal bony labyrinth	abnormal hyoid bone greater horn morphology	ectopic bone
	Mafb^kr/Mafb^kr
	Mafb^tm1.1Mardu/Mafb^tm1.1Mardu	*
	Mafb^tm1.2Mardu/Mafb^tm1.2Mardu	*

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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