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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Ctsktm1Psa
targeted mutation 1, Paul Saftig
MGI:2182131
Summary 3 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Ctsktm1Psa/Ctsktm1Psa involves: 129X1/SvJ * C57BL/6J MGI:3695740
cx2
Ctsktm1Psa/Ctsktm1Psa
Ctsltm1Cptr/Ctsltm1Cptr
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J MGI:3695741
cx3
Ctsbtm1Jde/Ctsbtm1Jde
Ctsktm1Psa/Ctsktm1Psa
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J MGI:3695742


Genotype
MGI:3695740
hm1
Allelic
Composition
Ctsktm1Psa/Ctsktm1Psa
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsktm1Psa mutation (1 available); any Ctsk mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Radiographs and histological analysis of Ctsktm1Psa/Ctsktm1Psa mice

skeleton
• resorptive bone surfaces poorly defined with a broad fringe of demineralized matrix
• osteoclasts seeded onto dentine sections develop shallower pits with thicker layers of unprocessed residual matrix
• diaphyseal cortical bone is less readily distinguished from subjacent trabecular bone
• increased height of tibial growth plates
• external form of bones is more gracile
• dense trabeculation of bone marrow spaces in long bones particularly in regions of rapid longitudinal growth, distal femur and proximal tibia
• retention of cancellous bone in the shafts of long bones
• primary spongiosa of vertebrae is retained as well
• plates of bone more common than in controls where thinner rods are more typical

respiratory system
• untreated mice with 20% thicker alveolar walls
• 1.5X greater collagen concentrations than in controls
• more pronounced alveolar wall remodeling after bleomycin administration, increased 18% as opposed to 6% in controls
• collagen concentration increased 3 fold as opposed to 2 fold in controls

immune system
• resorptive bone surfaces poorly defined with a broad fringe of demineralized matrix
• osteoclasts seeded onto dentine sections develop shallower pits with thicker layers of unprocessed residual matrix

hematopoietic system
• resorptive bone surfaces poorly defined with a broad fringe of demineralized matrix
• osteoclasts seeded onto dentine sections develop shallower pits with thicker layers of unprocessed residual matrix

homeostasis/metabolism
• significantly larger amounts of amyloid deposited in the spleen
• amyloid deposits of smaller sized protein




Genotype
MGI:3695741
cx2
Allelic
Composition
Ctsktm1Psa/Ctsktm1Psa
Ctsltm1Cptr/Ctsltm1Cptr
Genetic
Background
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsktm1Psa mutation (1 available); any Ctsk mutation (29 available)
Ctsltm1Cptr mutation (2 available); any Ctsl mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands
• cells with enlarged lysosomes
• 80% increase in size over controls

homeostasis/metabolism
• 5-6 fold increases in thyroglobulin levels
• significantly reduced levels of free T4
• deficient serum levels of T4




Genotype
MGI:3695742
cx3
Allelic
Composition
Ctsbtm1Jde/Ctsbtm1Jde
Ctsktm1Psa/Ctsktm1Psa
Genetic
Background
involves: 129P2/OlaHsd * 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Ctsbtm1Jde mutation (3 available); any Ctsb mutation (40 available)
Ctsktm1Psa mutation (1 available); any Ctsk mutation (29 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
endocrine/exocrine glands

homeostasis/metabolism
• extremely high levels of thyroglobulin





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
04/16/2024
MGI 6.23
The Jackson Laboratory