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Symbol
Name
ID 		Ctsk
cathepsin K
MGI:107823
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
Prominent occiput
Coronal craniosynostosis
Micrognathia
Obtuse angle of mandible
Hypoplasia of the maxilla
Absent frontal sinuses
Delayed pneumatization of the mastoid process
Delayed cranial suture closure
Persistent open anterior fontanelle
Wormian bones
Enamel hypoplasia
Osteolytic defects of the distal phalanges of the hand
Short finger
Brachydactyly
Short foot
Small hand
Acromelia
Mesomelia
Rhizomelia
Joint hypermobility
Increased susceptibility to fractures
Hypoplastic iliac wing
Narrow iliac wing
Abnormal clavicle morphology
Aplastic clavicle
Narrow chest
Hyperlordosis
Kyphosis
Scoliosis
Spondylolisthesis
Spondylolysis
Increased bone mineral density
Generalized osteosclerosis
Disease(s) Associated with CTSK
pycnodysostosis

Mouse Phenotypes
skeleton phenotype
abnormal osteoblast differentiation
abnormal osteoclast differentiation
abnormal osteoblast physiology
wide cranial sutures
abnormal neurocranium morphology
large fontanelles
thin neurocranium
abnormal jaw morphology
abnormal alveolar process morphology
abnormal tooth development
malocclusion
absent mandibular angle
increased osteoclast cell number
abnormal osteoclast morphology
abnormal osteoclast physiology
abnormal phalanx morphology
abnormal tibia morphology
increased diameter of tibia
short tibia
abnormal skeleton morphology
abnormal long bone diaphysis morphology
increased long bone epiphyseal plate size
spondylolysis
abnormal bone structure
abnormal bone marrow cavity morphology
increased bone mineral density
increased compact bone volume
increased trabecular bone volume
decreased bone volume
increased bone volume
abnormal compact bone morphology
increased compact bone area
increased osteoblast cell number
abnormal trabecular bone morphology
increased bone trabecula number
increased trabecular bone connectivity density
increased trabecular bone mass
increased trabecular bone thickness
osteopetrosis
abnormal skeleton physiology
increased bone mineralization
increased bone ossification
abnormal bone remodeling
abnormal bone resorption
fragile skeleton
Availability Mouse Genotype
Ctsktm1.1Rbar/Ctsktm1.1Rbar *
Ctsktm1b(EUCOMM)Hmgu/Ctsktm1b(EUCOMM)Hmgu
Ctsktm1Mbs/Ctsktm1Mbs
Ctsktm1Psa/Ctsktm1Psa
Ctsktm1Vuo/Ctsktm1Vuo
Ctsktm1Ypl/Ctsktm1Ypl ! ! ! !
Ctsktm1.1Rbar/Ctsktm1.1Rbar
Tg(Itgam-cre)AJva/0  (conditional)
Ctsktm1.1Rbar/Ctsktm1.1Rbar
Tg(Mx1-cre)1Cgn/0  (conditional)
Ctsktm1.1Rbar/Ctsktm1.1Rbar
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/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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Send questions and comments to User Support. 		last database update
04/09/2024
MGI 6.23 		The Jackson Laboratory