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Aph1atm1.1Bdes
Targeted Allele Detail
Nomenclature
Symbol: Aph1atm1.1Bdes
Name: aph1 homolog A, gamma secretase subunit; targeted mutation 1.1, Bart De Strooper
MGI ID: MGI:3530440
Synonyms: Aph-1A-
Gene: Aph1a  Location: Chr3:95893969-95898288 bp, + strand  Genetic Position: Chr3, 41.47 cM
Impaired vascular development and mild somitogenesis defects in Aph1atm1.1Bdes/Aph1atm1.1Bdes mice

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:96106
Parent Cell Line:  E14 (ES Cell)
Strain of Origin:  129P2/OlaHsd
Mutation
description
Allele Type:    Targeted (Null/knockout)
Mutations:    Insertion, Intragenic deletion
 
Mutation detailsCrossing Aph1atm1Bdes with mice expressing cre in the germ line created this allele in which exons 2-7 were deleted via cre-mediated recombination, leaving a lacZ sequence with a 5' splice acceptor sequence downstream of exons 1 and 2. RT-PCR and Western blot of mutant MEFs demonstrated the lack of expression of mRNA or protein, respectively. (J:96106)
Phenotypes
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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 Aph1a Mutation:  10 strains or lines available
References
Original:  J:96106 Serneels L, et al., Differential contribution of the three Aph1 genes to gamma-secretase activity in vivo. Proc Natl Acad Sci U S A. 2005 Feb 1;102(5):1719-24
All:  1 reference(s)

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory