- 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
B6.129P2-Psen1tm1Bdes/Cnrm
Status | Available to order |
EMMA ID | EM:00303 |
International strain name | B6.129P2-Psen1tm1Bdes/Cnrm |
Alternative name | PS1-/- |
Strain type | Targeted Mutant Strains : Knock-out |
Allele/Transgene symbol | Psen1tm1Bdes, |
Gene/Transgene symbol | Psen1 |
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 neomycin cassette in the presenilin 1 gene, disrupting the open reading frame. |
Phenotypic information | Disturbed 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 history | Backcrossed 14 generations to C57BL/6. |
References |
|
Homozygous fertile | no |
Homozygous viable | no |
Information from EMMA
Archiving centre | CNR, 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
- Behavioral variant of frontotemporal dementia / Orphanet_275864
- Familial isolated dilated cardiomyopathy / Orphanet_154
- Early-onset autosomal dominant Alzheimer disease / Orphanet_1020
- Semantic dementia / Orphanet_100069
- Progressive non-fluent aphasia / Orphanet_100070
MGI phenotypes (allele matching)
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
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