Symbol
Name
ID

Mbtps2
membrane-bound transcription factor peptidase, site 2
MGI:2444506

Phenotype annotations related to skeleton

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

Human Phenotypes

Frontal bossing

Microcephaly

Abnormal dental enamel morphology

Dentinogenesis imperfecta

Bowing of the arm

Bowing of the legs

Postaxial hand polydactyly

Camptodactyly of finger

Oligodactyly

Ectrodactyly

Hip dislocation

Rhizomelia

Joint hypermobility

Delayed skeletal maturation

Multiple prenatal fractures

Recurrent fractures

Abnormal pelvis bone morphology

Pectus carinatum

Pectus excavatum

Unilateral chest hypoplasia

Abnormality of the vertebral column

Kyphosis

Scoliosis

Abnormal vertebral morphology

Biconcave vertebral bodies

Platyspondyly

Butterfly vertebrae

Vertebral wedging

Osteopenia

Disease(s) Associated with MBTPS2

ichthyosis follicularis-alopecia-photophobia syndrome 1

osteogenesis imperfecta type 19

Mouse Phenotypes		skeleton phenotype	decreased long bone epiphyseal plate size	decreased subchondral bone mineral content	abnormal osteocyte canaliculus morphology	abnormal trabecular bone morphology	increased chondrocyte number	abnormal articular cartilage morphology	decreased bone mineralization
Availability	Mouse Genotype	skeleton phenotype	decreased long bone epiphyseal plate size	decreased subchondral bone mineral content	abnormal osteocyte canaliculus morphology	abnormal trabecular bone morphology	increased chondrocyte number	abnormal articular cartilage morphology	decreased bone mineralization
	Mbtps2^em1Sapo/Mbtps2⁺	*
	Mbtps2^em2Sapo/Mbtps2⁺	*

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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