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Symbol
Name
ID
Slc4a2
solute carrier family 4 (anion exchanger), member 2
MGI:109351
Phenotype annotations related to skeleton
Darker colors indicate more annotations
Human Phenotypes
Craniosynostosis
Macrocephaly
Bowing of the long bones
Abnormal metaphysis morphology
Bone pain
Recurrent fractures
Abnormal epiphysis morphology
Abnormal rib morphology
Narrow chest
Osteopetrosis
Reduced bone mineral density
Disease(s) Associated with SLC4A2
osteopetrosis

Mouse Phenotypes
failure of tooth eruption
abnormal osteoclast morphology
abnormal osteoclast physiology
abnormal long bone morphology
abnormal long bone metaphysis morphology
abnormal bone marrow cavity morphology
increased trabecular bone volume
abnormal trabecular bone morphology
increased bone trabecula number
increased trabecular bone thickness
increased bone mass
osteopetrosis
abnormal skeleton development
Availability Mouse Genotype
Slc4a2tm1Ges/Slc4a2tm1Ges
Slc4a2tm2Ges/Slc4a2tm2Ges
Ctsktm1(cre)Ska/Ctsk+  (conditional)
Slc4a2tm2Ges/Slc4a2tm2Ges
Tg(Mx1-cre)1Cgn/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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last database update
04/30/2024
MGI 6.23
The Jackson Laboratory