IMPC phenotypes (gene matching)
B6;129P2-Ctsdtm1Cptr/Ph
| Status | Available to order |
| EMMA ID | EM:08122 |
| Citation information | RRID:IMSR_EM:08122 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;129P2-Ctsdtm1Cptr/Ph |
| Alternative name | Cathepsin D |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Ctsdtm1Cptr |
| Gene/Transgene symbol | Ctsd |
Information from provider
| Provider | Paul Saftig |
| Provider affiliation | Institute of Biochemistry, Christian-Albrechts-University Kiel |
| Genetic information | A 9.6 kb restriction fragment of cosmid clone mCDI was subcloned. The neo expression cassette from pMCIneopA was inserted into a KpnI restriction site in exon 4 of the Ctsd gene. A linker fragment had been ligated to the XhoI site at the 5' end of the neo cassette and a second linker fragment had been ligated to the HindlIl site at the 3' end of the neo cassette. The insertion of the neo cassette introduces a premature translational stop codon into the ORF of the Ctsd gene. The recombination construct (pCDneo4) was linearized with Notl and introduced into the ES cell line E14.1. |
| Phenotypic information | Homozygous:During first 2 weeks of life no phenotypic differences are detectable between homozygous Ctsd -/- mice and wild-type littermates. Thereafter weight increase of the Ctsd -/- animals begins to stagnate and weight starts to decline. At day 25, the mean weight of the Ctsd -/- mice was only 60% of that of wild-type littermates. Homozygous mutant animals die between day 25 and 27. During last days of life, Ctsd -/- animals exhibit reduction of spontaneous locomotion and escape reactions; progressive atactic gait disturbance was also observed. Necrosis of the small intestine was seen on autopsy of affected animals.Heterozygous:Heterozygous mice appear normal like wild-type mice. |
| References |
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| Homozygous fertile | no |
| 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
MGI allele-associated human disease models
Orphanet associated rare diseases, based on orthologous gene matching
- CLN10 disease / Orphanet_228337
MGI phenotypes (allele matching)
- abnormal microglial cell morphology / MGI
- abnormal crypts of Lieberkuhn morphology / MGI
- abnormal intestinal mucosa morphology / MGI
- decreased body weight / MGI
- abnormal retina morphology / MGI
- ataxia / MGI
- abnormal apoptosis / MGI
- thymus hypoplasia / MGI
- abnormal antigen presentation / MGI
- blindness / MGI
- seizures / MGI
- premature death / MGI
- abnormal spleen white pulp morphology / MGI
- abnormal ileum morphology / MGI
- tonic seizures / MGI
- decreased lymphocyte cell number / MGI
- abnormal thrombosis / MGI
- lysosomal protein accumulation / MGI
- decreased double-positive T cell number / MGI
- bradykinesia / MGI
- cellular phenotype / MGI
- retinal photoreceptor degeneration / MGI
- abnormal spleen B cell follicle morphology / MGI
MGI phenotypes (gene matching)
- abnormal microglial cell morphology / MGI
- abnormal hair cycle / MGI
- abnormal crypts of Lieberkuhn morphology / MGI
- abnormal intestinal mucosa morphology / MGI
- weakness / MGI
- hippocampal neuron degeneration / MGI
- decreased body weight / MGI
- abnormal retina morphology / MGI
- ataxia / MGI
- abnormal apoptosis / MGI
- thymus hypoplasia / MGI
- abnormal antigen presentation / MGI
- deafness / MGI
- blindness / MGI
- seizures / MGI
- premature death / MGI
- abnormal spleen white pulp morphology / MGI
- abnormal ileum morphology / MGI
- tonic seizures / MGI
- abnormal cochlear ganglion morphology / MGI
- neuron degeneration / MGI
- axonal dystrophy / MGI
- thymus atrophy / MGI
- decreased lymphocyte cell number / MGI
- abnormal thrombosis / MGI
- lysosomal protein accumulation / MGI
- decreased double-positive T cell number / MGI
- cachexia / MGI
- bradykinesia / MGI
- cellular phenotype / MGI
- retinal photoreceptor degeneration / MGI
- abnormal spleen B cell follicle morphology / MGI
- abnormal stomach wall morphology / MGI
- lethality at weaning, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- preweaning lethality, incomplete penetrance / MGI
- increased or absent threshold for auditory brainstem response / MGI
Literature references
- Mice deficient for the lysosomal proteinase cathepsin D exhibit progressive atrophy of the intestinal mucosa and profound destruction of lymphoid cells.;Saftig P, Hetman M, Schmahl W, Weber K, Heine L, Mossmann H, Köster A, Hess B, Evers M, von Figura K, ;1995;The EMBO journal;14;3599-608; 7641679
- Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.;Jabs Sabrina, Quitsch Arne, Käkelä Reijo, Koch Bettina, Tyynelä Jaana, Brade Helmut, Glatzel Markus, Walkley Steven, Saftig Paul, Vanier Marie T, Braulke Thomas, ;2008;Journal of neurochemistry;106;1415-25; 18498441