Psen2^tm1Haa
Targeted Allele Detail

Summary

• Symbol: Psen2^tm1Haa
• Name: presenilin 2; targeted mutation 1, Christian Haass
• MGI ID: MGI:2664242
• Synonyms: PS2^-
• Gene: Psen2 Location: Chr1:180054569-180091003 bp, - strand Genetic Position: Chr1, 84.19 cM
• Alliance: Psen2^tm1Haa page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:83860
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: Not Specified

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutation: Insertion
• Mutation details: The gene was disrupted by insertion of a neomycin resistance cassette into exon 5 via homologous recombination. Absence of gene expression was confirmed by Northern and Western blot analysis of brain lysates from homozygous mutant animals. (J:83860)

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)

	Allelic Composition	Genetic Background	Cell Line(s)
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hm1	Psen2^tm1Haa/Psen2^tm1Haa	involves: 129S/SvEv * C57BL/6
cn2  Disease Model	Psen1^tm2Shn/Psen1^tm4.1Shn Psen2^tm1Haa/Psen2^tm1Haa Tg(Camk2a-cre)1Shn/0	involves: 129 * 129S4/SvJae * C57BL/6 * C57BL/6J * CBA
cn3	Psen1^tm2Shn/Psen1^tm2Shn Psen2^tm1Haa/Psen2^+ Tg(Msx2-cre)5Rem/0	involves: 129S4/SvJae
cn4	Psen1^tm2Shn/Psen1^tm2Shn Psen2^tm1Haa/Psen2^tm1Haa Tg(Msx2-cre)5Rem/0	involves: 129S4/SvJae * C57BL/6 * CBA
cx5  Disease Model	Psen1^tm4.1Shn/Psen1^+ Psen2^tm1Haa/Psen2^tm1Haa	involves: 129 * C57BL/6 * C57BL/6J
cx6	Psen1^tm3.1Shn/Psen1^tm3.1Shn Psen2^tm1Haa/Psen2^tm1Haa	involves: 129 * C57BL/6 * C57BL/6J * CBA

Phenotypes:

Affected Systems	hm1	cn2	cn3	cn4	cx5	cx6
show or hide all annotated terms
behavior/neurological					√	√
abnormal spatial reference memory					√
abnormal spatial working memory						√
digestive/alimentary system				√
esophagus hyperplasia				√
endocrine/exocrine glands				√
absent sebocyte				√
growth/size/body				√
esophagus hyperplasia				√
epidermal cyst				√
decreased body size				√
hematopoietic system		√
microgliosis		√
immune system		√
microgliosis		√
integument			√	√
absent sebocyte				√
epidermal cyst				√
abnormal hair growth				√
focal hair loss				√
short hair				√
abnormal hair follicle morphology			√	√
abnormal hair follicle inner root sheath morphology				√
hair follicle degeneration				√
epidermal hyperplasia				√
thick epidermis				√
scaly skin				√
thick skin				√
mortality/aging				√
premature death				√
nervous system		√			√
microgliosis		√
abnormal cerebral cortex morphology		√
abnormal neocortex morphology		√
astrocytosis		√
decreased neuron number		√
neurodegeneration		√
impaired synaptic plasticity					√
reduced long-term potentiation					√
increased synaptic depression					√
decreased paired-pulse facilitation					√
normal phenotype	√
no abnormal phenotype detected	√

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

Disease models

Key:

√

disease model

expected model not found

Models:

Human Diseases	cn2	cx5
Alzheimer's disease IDs Alzheimer's disease       DOID:10652 ICD10CM:G30 ICD9CM:331.0 KEGG:05010 MESH:D000544 NCI:C2866 UMLS_CUI:C0002395 Close	√	√

Expression

In Mice Carrying this Mutation:

52043 assay results 4 RNA-Seq or microarray experiment(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 Psen2 Mutation: 32 strains or lines available

References

• Original: J:83860 Steiner H, et al., A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling. J Biol Chem. 1999 Oct 1;274(40):28669-73
• All: 41 reference(s)