IMPC phenotypes (gene matching)
B6;129P2-Ctsdtm1Cptr/Ph
| Status | Available to order |
| EMMA ID | EM:08122 |
| 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