Psen1^tm1Lpr
Targeted Allele Detail

Summary

• Symbol: Psen1^tm1Lpr
• Name: presenilin 1; targeted mutation 1, Laurent Pradier
• MGI ID: MGI:3510457
• Synonyms: PS1KI, Ps1^M233T,L235P
• Gene: Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
• Alliance: Psen1^tm1Lpr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:93770
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted
• Mutation: Nucleotide substitutions
• Mutation details: Two point mutations were introduced into exon 7: M233T and L235P, and a neomycin resistance gene inserted into intron 6. Western blot demonstrated a normal levels of protein in mutants. (J:93770)

Phenotypes

Key:

hm	homozygous	ht	heterozygous	tg	involves transgenes	√	phenotype observed
cn	conditional genotype	cx	complex: > 1 genome feature	ot	other: hemizygous, indeterminate,...	N	normal phenotype

Genotype/
Background:

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Psen1^tm1Lpr/Psen1^tm1Lpr	involves: 129 * C57BL/6 * CBA
cx2  Disease Model	Psen1^tm1Lpr/Psen1^tm1Lpr Tg(Thy1-APP^SL)28Lpr/0	either: 129/Sv or (involves: 129/Sv * C57BL/6)
cx3  Disease Model	Psen1^tm1Lpr/Psen1^tm1Lpr Tg(Thy1-APP^SL)28Lpr/0	involves: 129 * C57BL/6 * CBA

Phenotypes:

Affected Systems	hm1	cx2	cx3
show or hide all annotated terms
behavior/neurological			√
limb grasping			√
impaired coordination			√
growth/size/body			√
decreased body weight			√
homeostasis/metabolism	√	√	√
amyloid beta deposits		√	√
decreased circulating cholesterol level			√
increased circulating cholesterol level	√		√
nervous system		√	√
amyloid beta deposits		√	√
abnormal thalamus morphology			√
abnormal hippocampus morphology			√
abnormal dentate gyrus morphology			√
abnormal hippocampus granule cell morphology			√
abnormal hippocampus pyramidal cell layer		√
abnormal frontal lobe morphology			√
abnormal neurite morphology			√
abnormal axon morphology			√
abnormal myelin sheath morphology			√
decreased neuron number			√

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cx2	cx3
Alzheimer's disease IDs Alzheimer's disease       DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395 Close	√	√
Alzheimer's disease 3 IDs Alzheimer's disease 3       DOID:0110042 OMIM:607822 Close	√

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Psen1 Mutation: 48 strains or lines available

References

• Original: J:93770 Casas C, et al., Massive CA1/2 neuronal loss with intraneuronal and N-terminal truncated Abeta42 accumulation in a novel Alzheimer transgenic model. Am J Pathol. 2004 Oct;165(4):1289-300
• All: 23 reference(s)