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Symbol
Name
ID

Tcirg1
T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3
MGI:1350931

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

Craniosynostosis

Calvarial osteosclerosis

Macrocephaly

Coxa vara

Femur fracture

Flared metaphysis

Osteomyelitis

Pathologic fracture

Sandwich appearance of vertebral bodies

Increased bone mineral density

Osteopetrosis

Disease(s) Associated with TCIRG1

autosomal recessive osteopetrosis 1

Mouse Phenotypes

skeleton phenotype

abnormal incisor morphology

abnormal predentin morphology

delayed tooth eruption

failure of tooth eruption

absent teeth

increased osteoclast cell number

abnormal osteoclast morphology

abnormal osteoclast physiology

abnormal long bone hypertrophic chondrocyte zone

increased width of hypertrophic chondrocyte zone

increased long bone epiphyseal plate size

abnormal long bone metaphysis morphology

abnormal bone marrow cavity morphology

increased bone mineral content

increased bone mineral density

decreased compact bone thickness

absent compact bone

abnormal trabecular bone morphology

increased trabecular bone mass

osteopetrosis

abnormal bone ossification

abnormal bone mineralization

rickets

failure of bone resorption

Availability

Mouse Genotype

Tcirg1^oc/Tcirg1^oc

Tcirg1^tm1.2Ywd/Tcirg1^tm1.2Ywd

Tcirg1^tm1Ypl/Tcirg1^tm1Ypl

Tcirg1^M1Jeau/Tcirg1⁺

*

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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