Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

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

Germline Transmission:	Earliest citation of germline transmission: J:96106
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutation:    Intragenic deletion   Mutation details: Cre 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)

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

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:	17 strains or lines available

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)