For the nitric oxide synthase (Nos2) knockout, 585 bp of the promoter and exons 1-4 were deleted while inserting a neo cassette (PMID:7538909). Two additional transgenes were brought together with the KO, where (A) the gold hamster prion protein (Prnp) promoter drives the expression of human amyloid beta (A4) precursor protein (APP, NCBI Gene:351) with the Swedish mutation (K670N/M671L), and (B) the human thymus cell antigen 1, theta (THY1, NCBI Gene:7070) promoter drives the expression of human presenilin 1 (PSEN1, NCBI Gene:5663) with the A246E mutation.

• PSEN1 A246E mutation
  • Genbank RefSeq - mRNA: NM_000021.4
  • Genbank RefSeq, protein: NP_000012.1
  • Variant, nucleic acid level: c.737C>A
  • Variant, amino acid level, predicted: p.Ala246Glu
    Check this variant: LUMC Mutalyzer
    
    
• APP "Swedish Mutation" - K670N/M671L
  • Genbank RefSeq - mRNA: NM_001198823.1
  • Genbank RefSeq, protein: NP_001185752.1
  • Variant, nucleic acid level: c.2010G>T and c.2011A>C = c.2010_2011inv
  • Variant, amino acid level, predicted: p.Lys670_Met671delinsAsnLeu (K670N/M671L)
    Check this variant: LUMC Mutalyzer

• Alzheimer Disease/enzymology
• Alzheimer Disease/genetics
• Alzheimer Disease/mortality
• Alzheimer Disease/pathology
• Animals
• Brain/enzymology
• Brain/pathology
Show More
• Crosses, Genetic
• Disease Models, Animal
• Gene Deletion
• Humans
• Inbreeding
• Mice
• Mice, Inbred C57BL
• Mice, Knockout
• Mice, Transgenic
• Nitric Oxide Synthase Type II/deficiency
• Nitric Oxide Synthase Type II/genetics
• Aging
• Alzheimer Disease/metabolism
• Amyloid beta-Peptides/analysis
• Amyloid beta-Protein Precursor/analysis
• Amyloid beta-Protein Precursor/genetics
• Brain Chemistry
• Learning Disabilities/metabolism
• Learning Disabilities/pathology
• Maze Learning
• Memory Disorders/metabolism
• Memory Disorders/pathology
• Peptide Fragments/analysis
• Psychomotor Performance
• Amino Acid Oxidoreductases/deficiency
• Amino Acid Oxidoreductases/genetics
• Bacterial Infections/metabolism
• Base Sequence
• Mice, Mutant Strains
• Molecular Sequence Data
• Nitric Oxide Synthase
• Shock, Septic/metabolism
• Amyloid beta-Protein Precursor/metabolism
• Astrocytes/metabolism
• Astrocytes/pathology
• Blotting, Western
• Cerebral Cortex/metabolism
• Cerebral Cortex/pathology
• Cerebral Cortex/ultrastructure
• Female
• Glial Fibrillary Acidic Protein/metabolism
• Immunohistochemistry
• Microscopy, Confocal
• Neurons/metabolism
• Neurons/pathology
• Neurons/ultrastructure
• Nitric Oxide/metabolism
• Nitric Oxide Synthase/metabolism
• Plaque, Amyloid/metabolism
• Plaque, Amyloid/pathology
• Tyrosine/analogs & derivatives
• Tyrosine/metabolism
• Bone and Bones/abnormalities
• Bone and Bones/embryology
• Brain/abnormalities
• Brain/embryology
• Brain Chemistry/genetics
• Gene Expression Regulation, Developmental/physiology
• Male
• Membrane Proteins/genetics
• Mutagenesis/physiology
• Pregnancy
• Presenilin-1
• Transgenes/physiology
• Amino Acid Sequence
• Codon/genetics
• Exons
• Genetic Linkage
• Genetic Variation
• Middle Aged
• Oligodeoxyribonucleotides
• Pedigree
• Point Mutation
• Transcription, Genetic
• Alzheimer Disease
• Behavior, Animal
• Brain/metabolism
• Central Nervous System Diseases/genetics
• Central Nervous System Diseases/mortality
• Central Nervous System Diseases/physiopathology
• Cosmids
• Gene Expression
• Genetic Vectors
• Glucose/metabolism

• Immunology and Inflammation
• Models for Human Disease

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Hsiao K, Chapman P, Nilsen S, Eckman C, Harigaya Y, Younkin S, Yang F, Cole G. Correlative memory deficits, Abeta elevation, and amyloid plaques in transgenic mice. Science. 1996 Oct 4;274(5284):99-102. (Medline PMID: 8810256)

MacMicking JD, Nathan C, Hom G, Chartrain N, Fletcher DS, Trumbauer M, Stevens K, Xie QW, Sokol K, Hutchinson N, et al. Altered responses to bacterial infection and endotoxic shock in mice lacking inducible nitric oxide synthase. Cell. 1995 May 19;81(4):641-50. Erratum in: Cell 1995 Jun 30;81(7):following 1170. (Medline PMID: 7538909)

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Qian S, Jiang P, Guan XM, Singh G, Trumbauer ME, Yu H, Chen HY, Van de Ploeg LH, Zheng H. Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates Abeta1-42/43 expression. Neuron. 1998 Mar;20(3):611-7. (Medline PMID: 9539133)

Mullan M, Crawford F, Axelman K, Houlden H, Lilius L, Winblad B, Lannfelt L. A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid. Nat Genet. 1992 Aug;1(5):345-7. (Medline PMID: 1302033)

Hsiao KK, Borchelt DR, Olson K, Johannsdottir R, Kitt C, Yunis W, Xu S, Eckman C, Younkin S, Price D, et al. Age-related CNS disorder and early death in transgenic FVB/N mice overexpressing Alzheimer amyloid precursor proteins. Neuron. 1995 Nov;15(5):1203-18. (Medline PMID: 7576662)