B6;129P2-Ctsd^tm1Cptr/Ph

Status	Available to order
EMMA ID	EM:08122
International strain name	B6;129P2-Ctsd^tm1Cptr/Ph
Alternative name	Cathepsin D
Strain type	Targeted Mutant Strains : Knock-out
Allele/Transgene symbol	Ctsd^tm1Cptr,
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	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
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

neuronal ceroid lipofuscinosis 10 / DOID:0110725

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

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

Order

Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

Material Transfer Agreement (MTA)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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B6;129P2-Ctsdtm1Cptr/Ph