IMPC phenotypes (gene matching)
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)
- 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
MGI phenotypes (gene matching)
- abnormal neurocranium morphology / MGI
- abnormal basioccipital bone morphology / MGI
- abnormal vertebrae morphology / MGI
- absent vertebral pedicles / MGI
- abnormal vertebral body morphology / MGI
- abnormal rib morphology / MGI
- rib fusion / MGI
- abnormal sternum morphology / MGI
- abnormal vascular development / MGI
- abnormal angiogenesis / MGI
- double outlet right ventricle / MGI
- abnormal hindlimb morphology / MGI
- kinked tail / MGI
- short tail / MGI
- hindlimb paralysis / MGI
- abnormal forebrain morphology / MGI
- abnormal cerebral cortex morphology / MGI
- abnormal stratification in cerebral cortex / MGI
- abnormal cortical marginal zone morphology / MGI
- abnormal temporal lobe morphology / MGI
- abnormal hippocampus development / MGI
- abnormal dentate gyrus morphology / MGI
- dilated lateral ventricles / MGI
- abnormal third ventricle morphology / MGI
- abnormal diencephalon morphology / MGI
- small embryonic telencephalon / MGI
- abnormal spinal cord morphology / MGI
- fused dorsal root ganglion / MGI
- abnormal ovary morphology / MGI
- decreased body length / MGI
- decreased body weight / MGI
- decreased body size / MGI
- abnormal spatial learning / MGI
- abnormal contextual conditioning behavior / MGI
- increased startle reflex / MGI
- abnormal blood vessel morphology / MGI
- abnormal apoptosis / MGI
- failure of somite differentiation / MGI
- abnormal somite shape / MGI
- decreased embryo size / MGI
- increased circulating follicle stimulating hormone level / MGI
- skin edema / MGI
- hemorrhage / MGI
- intracranial hemorrhage / MGI
- intracerebral hemorrhage / MGI
- intraventricular hemorrhage / MGI
- female infertility / MGI
- premature death / MGI
- abnormal postnatal growth/weight/body size / MGI
- abnormal axial skeleton morphology / MGI
- abnormal brain morphology / MGI
- no abnormal phenotype detected / MGI
- neurodegeneration / MGI
- abnormal pulmonary alveolus morphology / MGI
- abnormal rib development / MGI
- curly tail / MGI
- omphalocele / MGI
- neurofibrillary tangles / MGI
- neuron degeneration / MGI
- decreased rib number / MGI
- abnormal body wall morphology / MGI
- premature neuronal precursor differentiation / MGI
- nervous system phenotype / MGI
- abnormal capillary morphology / MGI
- abnormal sagittal suture morphology / MGI
- caudal body truncation / MGI
- abnormal spine curvature / MGI
- decreased fetal size / MGI
- fetal growth retardation / MGI
- tau protein deposits / MGI
- abnormal lateral ganglionic eminence morphology / MGI
- short sternum / MGI
- abnormal vertebral lamina morphology / MGI
- vertebral fusion / MGI
- cervical vertebral fusion / MGI
- lumbar vertebral fusion / MGI
- sacral vertebral fusion / MGI
- abnormal thoracic cage morphology / MGI
- abnormal vertebral column morphology / MGI
- abnormal neuronal precursor proliferation / MGI
- abnormal brain vasculature morphology / MGI
- increased neuronal precursor cell number / MGI
- decreased neuronal precursor cell number / MGI
- increased circulating cholesterol level / MGI
- abnormal dorsal-ventral polarity of the somites / MGI
- abnormal vertebrae development / MGI
- limbs/digits/tail phenotype / MGI
- growth/size/body region phenotype / MGI
- embryo phenotype / MGI
- craniofacial phenotype / MGI
- cardiovascular system phenotype / MGI
- behavior/neurological phenotype / MGI
- respiratory system phenotype / MGI
- reproductive system phenotype / MGI
- skeleton phenotype / MGI
- vascular stenosis / MGI
- loose skin / MGI
- increased vasodilation / MGI
- abnormal meninges morphology / MGI
- abnormal neuronal migration / MGI
- abnormal sclerotome morphology / MGI
- spinal hemorrhage / MGI
- abnormal vascular endothelial cell morphology / MGI
- abnormal limb development / MGI
- decreased Cajal-Retzius cell number / MGI
- abnormal costovertebral joint morphology / MGI
- increased susceptibility to neuronal excitotoxicity / MGI
- abnormal bone ossification / MGI
- thin cortical plate / MGI
- abnormal cortical ventricular zone morphology / MGI
- abnormal rostral-caudal patterning of the somites / MGI
- abnormal neuron differentiation / MGI
- increased grip strength / MGI
- ventricular septal defect / MGI
- supravalvar pulmonary trunk stenosis / MGI
- mortality/aging / MGI
- integument phenotype / MGI
- postnatal lethality, incomplete penetrance / MGI
- neonatal lethality, complete penetrance / MGI
- perinatal lethality, complete penetrance / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- prenatal lethality, incomplete penetrance / MGI
- short rostral-caudal axis / MGI
- decreased capillary density / MGI
- occipital bone hypoplasia / 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
- Molecular Fingerprint and Developmental Regulation of the Tegmental GABAergic and Glutamatergic Neurons Derived from the Anterior Hindbrain.;Morello Francesca, Borshagovski Daniel, Survila Mantas, Tikker Laura, Sadik-Ogli Samir, Kirjavainen Anna, Estartús Nuri, Knaapi Laura, Lahti Laura, Törönen Petri, Mazutis Linas, Delogu Alessio, Salminen Marjo, Achim Kaia, Partanen Juha, ;2020;Cell reports;33;108268; 33053343