Psen1<tm1Mpm> Targeted Allele Detail MGI Mouse (MGI:1930937)

Psen1^tm1Mpm
Targeted Allele Detail

Summary

Symbol:	Psen1^tm1Mpm
Name:	presenilin 1; targeted mutation 1, Mark P Mattson
MGI ID:	MGI:1930937
Synonyms:	PS1KI, PS1M146V, PS-1 M146V KI, PS1M146VKI^-
Gene:	Psen1 Location: Chr12:83734926-83781869 bp, + strand Genetic Position: Chr12, 38.84 cM
Alliance:	Psen1^tm1Mpm page

Amyloid beta deposits in App^tm3.1Zhe/App^tm3.1Zhe Psen1^tm1Mpm/Psen1^tm1Mpm mice

Show the 1 phenotype image(s) involving this allele.

Mutation
origin

Germline Transmission:	Earliest citation of germline transmission: J:51950
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl⁺

Mutation
description

Allele Type:		Targeted
Mutations:		Insertion, Nucleotide substitutions
		Mutation details: Point mutations were introduced into the coding region of exon 5 that altered the codons corresponding to amino acids 145 and 146 from isoleucine and methionine to valine and valine, respectively, and a BstEII restriction site. A lox-P flanked neomycin cassette was also introduced into exon 4. F2 mice exhibited the expected polymorphism of the targeted allele when genomic DNA was amplified with exon 5 specific primers and the products were digested with the appropriate restriction enzyme. Northern blot analysis of total brain RNA using a Psen1 specific antibody showed that the targeted allele was expressed at normal physiological levels in homozygous mutant mice. (J:51950)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 4 strains available Cell Lines: 3 lines available
Carrying any Psen1 Mutation:	48 strains or lines available

References

Original:	J:51950 Guo Q, et al., Increased vulnerability of hippocampal neurons to excitotoxic necrosis in presenilin-1 mutant knock-in mice. Nat Med. 1999 Jan;5(1):101-6
All:	718 reference(s)

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