IMPC phenotypes (gene matching)
B6;129-Ctsktm1Psa/Ph
| Status | Available to order |
| EMMA ID | EM:10406 |
| Citation information | RRID:IMSR_EM:10406 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | B6;129-Ctsktm1Psa/Ph |
| Alternative name | Cathepsin K |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Ctsktm1Psa |
| Gene/Transgene symbol | Ctsk |
Information from provider
| Provider | Paul Saftig |
| Provider affiliation | Institute of Biochemistry, Christian-Albrechts-University of Kiel |
| Genetic information | Cathepsin K-deficient mice by targeted inactivation of the cathepsin K gene (lysosomal cysteine proteinase K). A clone containing exons 6 to 8 of the mouse cathepsin K gene was isolated from a genomic l-EMBL-3 library. The neomycin phosphotransferase gene (Neo) was inserted in the HindIII site at the cDNA nucleotide position 857 under control of the phosphoglycerokinase, PGK, promoter. Insertion of the Neo cassette introduced a premature translational stop codon into the open reading frame of the cathepsin K gene. The targeting construct, pCK-Kpn(Neo), was used to disrupt the cathepsin K gene in embryonic stem cells. G418-resistant clones were screened by Southern analysis of genomic DNA. Mutated ESCs were microinjected into blastocysts of C57BL/6J females. The resulting chimeras were used to generate heterozygous and subsequently homozygous mutant offspring against an outbred 129/SvJ-C57BL/6J genetic background. |
| Phenotypic information | Homozygous:Homozygous cathepsin K-deficient mice survive and are fertile; they manifest no overt phenotypic abnormalities until the age of 10 months.Heterozygous:Heterozygotes exhibit a normal phenotype and fertility. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | Institute of Molecular Genetics, Prague, Czech Republic |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Pycnodysostosis / Orphanet_763
MGI phenotypes (allele matching)
- osteopetrosis / MGI
- abnormal trabecular bone morphology / MGI
- amyloidosis / MGI
- thick pulmonary interalveolar septum / MGI
- abnormal osteoclast physiology / MGI
- abnormal bone structure / MGI
- abnormal long bone diaphysis morphology / MGI
- pulmonary fibrosis / MGI
- increased long bone epiphyseal plate size / MGI
MGI phenotypes (gene matching)
- fragile skeleton / MGI
- increased bone mineral density / MGI
- abnormal bone marrow cavity morphology / MGI
- osteopetrosis / MGI
- abnormal neurocranium morphology / MGI
- abnormal tooth development / MGI
- malocclusion / MGI
- abnormal trabecular bone morphology / MGI
- abnormal vertebrae morphology / MGI
- abnormal jaw morphology / MGI
- abnormal tibia morphology / MGI
- ulcerated paws / MGI
- amyloidosis / MGI
- thick pulmonary interalveolar septum / MGI
- decreased body height / MGI
- decreased body weight / MGI
- abnormal skeleton physiology / MGI
- abnormal osteoclast physiology / MGI
- postnatal growth retardation / MGI
- abnormal bone remodeling / MGI
- abnormal bone structure / MGI
- abnormal compact bone morphology / MGI
- abnormal alveolar process morphology / MGI
- abnormal long bone diaphysis morphology / MGI
- absent mandibular angle / MGI
- abnormal bone resorption / MGI
- abnormal osteoclast morphology / MGI
- increased osteoclast cell number / MGI
- abnormal osteoblast physiology / MGI
- abnormal phalanx morphology / MGI
- growth/size/body region phenotype / MGI
- skeleton phenotype / MGI
- abnormal skeleton morphology / MGI
- pulmonary fibrosis / MGI
- increased long bone epiphyseal plate size / MGI
- increased diameter of tibia / MGI
- increased bone trabecula number / MGI
- increased trabecular bone mass / MGI
- decreased bone volume / MGI
- increased trabecular bone volume / MGI
- increased compact bone area / MGI
- wide cranial sutures / MGI
- thin neurocranium / MGI
- large fontanelles / MGI
Literature references
- Impaired osteoclastic bone resorption leads to osteopetrosis in cathepsin-K-deficient mice.;Saftig P, Hunziker E, Wehmeyer O, Jones S, Boyde A, Rommerskirch W, Moritz J D, Schu P, von Figura K, ;1998;Proceedings of the National Academy of Sciences of the United States of America;95;13453-8; 9811821