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Aph1ctm1.1Bdes
Targeted Allele Detail
Summary
Symbol: Aph1ctm1.1Bdes
Name: aph1 homolog C, gamma secretase subunit; targeted mutation 1.1, Bart De Strooper
MGI ID: MGI:3530442
Synonyms: Aph1c-
Gene: Aph1c  Location: Chr9:66722276-66741953 bp, - strand  Genetic Position: Chr9, 36.15 cM, cytoband D
Alliance: Aph1ctm1.1Bdes page
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)
Mutation:    Intragenic deletion
 
Mutation detailsCre mediated recombination excised exons 3 and 4 from Aph1ctm1Bdes, resulting in deletion of exons 3 and 4 and a frame shift in the ORF, subsequently deleting amino acids from 96 on. 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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View phenotypes and curated references for all genotypes (concatenated display).
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 Aph1c Mutation:  20 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:  4 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory