Symbol
Name
ID

Plekhm1
pleckstrin homology domain containing, family M (with RUN domain) member 1
MGI:2443207

Phenotype annotations related to skeleton

Darker colors indicate more annotations

Human Phenotypes

Craniosynostosis

Macrocephaly

Bowing of the long bones

Erlenmeyer flask deformity of the femurs

Abnormal metaphysis morphology

Dense metaphyseal bands

Bone pain

Recurrent fractures

Abnormal epiphysis morphology

Cortical sclerosis of the iliac wing

Abnormal rib morphology

Narrow chest

Osteopetrosis

Reduced bone mineral density

Disease(s) Associated with PLEKHM1

autosomal recessive osteopetrosis 6

osteopetrosis

Mouse Phenotypes

abnormal osteoclast morphology

abnormal osteoclast physiology

short tibia

abnormal vertebrae morphology

increased bone mineral content

increased bone mineral density

increased trabecular bone volume

decreased osteoblast cell number

increased bone trabecula number

decreased bone trabecular spacing

increased trabecular bone mass

decreased bone mineralization

decreased bone ossification

decreased bone resorption

Availability

Mouse Genotype

Plekhm1^tm1.2Hzhao/Plekhm1^tm1.2Hzhao

Plekhm1^{tm1b(EUCOMM)Hmgu}/Plekhm1^{tm1b(EUCOMM)Hmgu}

Ctsk^tm1(cre)Ska/Ctsk⁺
Plekhm1^tm1.1Hzhao/Plekhm1^tm1.1Hzhao (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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