Aph1a^tm1.1Bdes
Targeted Allele Detail

Summary

• Symbol: Aph1a^tm1.1Bdes
• Name: aph1 homolog A, gamma secretase subunit; targeted mutation 1.1, Bart De Strooper
• MGI ID: MGI:3530440
• Synonyms: Aph-1A^-
• Gene: Aph1a Location: Chr3:95801281-95805600 bp, + strand Genetic Position: Chr3, 41.47 cM
• Alliance: Aph1a^tm1.1Bdes page

Impaired vascular development and mild somitogenesis defects in Aph1a^tm1.1Bdes/Aph1a^tm1.1Bdes 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 details: Crossing Aph1a^tm1Bdes 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)

Expression

In Structures Affected by this Mutation:

6 anatomical structure(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 Aph1a Mutation: 19 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)