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Symbol
Name
ID

Clcn7
chloride channel, voltage-sensitive 7
MGI:1347048

Phenotype annotations related to skeleton

*	Aspects of the system are reported to show a normal phenotype.
!	Indicates phenotype varies with strain background.
	Darker colors indicate more annotations

Human Phenotypes

Frontal bossing

Mandibular osteomyelitis

Macrocephaly

Genu valgum

Short distal phalanx of finger

Abnormal metaphysis morphology

Abnormal metacarpal morphology

Osteomyelitis

Avascular necrosis

Bone pain

Recurrent fractures

Fractures of the long bones

Abnormal epiphysis morphology

Abnormal pelvic girdle bone morphology

Abnormality of the vertebral endplates

Sclerotic vertebral endplates

Increased bone mineral density

Generalized osteosclerosis

Osteopetrosis

Arthritis

Osteoarthritis

Hip osteoarthritis

Joint dislocation

Disease(s) Associated with CLCN7

autosomal dominant osteopetrosis 2

autosomal recessive osteopetrosis 4

Mouse Phenotypes

skeleton phenotype

small cranium

abnormal tooth eruption

failure of tooth eruption

increased osteoclast cell number

abnormal osteoclast morphology

abnormal osteoclast physiology

abnormal bone marrow cavity morphology

abnormal bone marrow morphology

myelofibrosis

increased bone mineral content

increased areal bone mineral density

increased bone mineral density

increased trabecular bone volume

increased bone volume

decreased compact bone area

decreased compact bone thickness

increased osteoblast cell number

abnormal trabecular bone morphology

increased bone trabecula number

decreased bone trabecular spacing

increased trabecular bone thickness

increased bone mass

osteopetrosis

abnormal bone ossification

decreased bone resorption

decreased bone strength

Availability

Mouse Genotype

Clcn7^tm1.1Aros/Clcn7^tm1.1Aros

Clcn7^tm1.1Lex/Clcn7^tm1.1Lex

*

Clcn7^tm1.1Mawa/Clcn7^tm1.1Mawa

Clcn7^tm1.1Teti/Clcn7^tm1.1Teti

Clcn7^tm1Tjj/Clcn7^tm1Tjj

Clcn7^tm2.1Mjec/Clcn7^tm2.1Mjec

Clcn7^tm2Tjj/Clcn7^tm2Tjj

Clcn7^tm4.1Tjj/Clcn7^tm4.1Tjj

Clcn7^tm5.1Tjj/Clcn7^tm5.1Tjj

Clcn7^tm1.1Mawa/Clcn7⁺

Clcn7^tm1.1Mawa/Clcn7^tm1.1Mjec

Clcn7^tm1.1Mjec/Clcn7⁺

!

!

Clcn7^tm1.1Teti/Clcn7⁺

Clcn7^tm3.1Tjj/Clcn7^tm3.1Tjj
Emx1^{tm1.1(cre)Ito}/Emx1⁺ (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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/23/2024 MGI 6.23