IMPC phenotypes (gene matching)
B6.129P2-Psen2tm1Bdes/Cnrm
| Status | Available to order |
| EMMA ID | EM:00304 |
| International strain name | B6.129P2-Psen2tm1Bdes/Cnrm |
| Alternative name | PS2-/- |
| Strain type | Targeted Mutant Strains : Knock-out |
| Allele/Transgene symbol | Psen2tm1Bdes |
| Gene/Transgene symbol | Psen2 |
Information from provider
| Provider | Bart De Stropper |
| Provider affiliation | Flanders interuniversitary institute for biotechnologies (VIB) |
| Genetic information | The null mutation was generated by introducing a hygromycin cassette in the presenilin 2 gene, thus disrupting the open reading frame. |
| Phenotypic information | Presenilin 2-deficient mice are quite normal, in contrast to presenilin 1-deficient mice (see EMMA strain EM:00303). So far only mild hemorrhage in the lung and some mild fibrosis have been observed. When crossed to the presenilin 1 deficient mice the double mutant progeny show early lethality (E9.5) and a full notch-deficient-like phenotype (Herreman et al., 1999; Proc Natl Acad Sci U S A. 96:11872-7). |
| Breeding history | Backcrossed 14 generations to C57BL/6. |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Familial isolated dilated cardiomyopathy / Orphanet_154
- Early-onset autosomal dominant Alzheimer disease / Orphanet_1020
MGI phenotypes (gene matching)
Literature references
- Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency.;Herreman A, Hartmann D, Annaert W, Saftig P, Craessaerts K, Serneels L, Umans L, Schrijvers V, Checler F, Vanderstichele H, Baekelandt V, Dressel R, Cupers P, Huylebroeck D, Zwijsen A, Van Leuven F, De Strooper B, ;1999;Proceedings of the National Academy of Sciences of the United States of America;96;11872-7; 10518543
- Calcium Signaling and Mitochondrial Function in Presenilin 2 Knock-Out Mice: Looking for Any Loss-of-Function Phenotype Related to Alzheimer's Disease.;Rossi Alice, Galla Luisa, Gomiero Chiara, Zentilin Lorena, Giacca Mauro, Giorgio Valentina, Calì Tito, Pozzan Tullio, Greotti Elisa, Pizzo Paola, ;2021;Cells;10;; 33494218