B6.129P2-Psen1tm1Bdes/Cnrm

Status

Available to order

EMMA IDEM:00303
International strain nameB6.129P2-Psen1tm1Bdes/Cnrm
Alternative namePS1-/-
Strain typeTargeted Mutant Strains : Knock-out
Allele/Transgene symbolPsen1tm1Bdes,
Gene/Transgene symbolPsen1

Information from provider

ProviderBart De Stropper
Provider affiliationFlanders interuniversitary institute for biotechnologies (VIB)
Genetic informationThe null mutation was generated by introducing a neomycin cassette in the presenilin 1 gene, disrupting the open reading frame.
Phenotypic informationDisturbed somitogenesis, hemorrhage in brain and vascular malformation, lissencephaly (neuronal migration disorder). Presenilin 1 is a major protease controlling the regulated intramembrane proteolysis of the amyloid precursor protein, as well as notch and other proteins.
Breeding historyBackcrossed 14 generations to C57BL/6.
References
  • Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein.;De Strooper B, Saftig P, Craessaerts K, Vanderstichele H, Guhde G, Annaert W, Von Figura K, Van Leuven F, ;1998;Nature;391;387-90; 9450754
Homozygous fertileno
Homozygous viableno

Information from EMMA

Archiving centreCNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

MGI phenotypes (allele matching)
  • abnormal neurocranium morphology / MGI
  • short tail / MGI
  • abnormal cerebral cortex morphology / MGI
  • abnormal cortical marginal zone morphology / MGI
  • intracerebral hemorrhage / MGI
  • omphalocele / MGI
  • abnormal body wall morphology / MGI
  • abnormal sagittal suture morphology / MGI
  • fetal growth retardation / MGI
  • abnormal brain vasculature morphology / MGI
  • abnormal meninges morphology / MGI
  • abnormal neuronal migration / MGI
  • decreased Cajal-Retzius cell number / MGI
  • lethality throughout fetal growth and development, complete penetrance / MGI

Literature references

  • Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein.;De Strooper B, Saftig P, Craessaerts K, Vanderstichele H, Guhde G, Annaert W, Von Figura K, Van Leuven F, ;1998;Nature;391;387-90; 9450754

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)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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