C57BL/6JCya-Aph1cem1flox/Cya
Common Name:
Aph1c-flox
Product ID:
S-CKO-17609
Background:
C57BL/6JCya
Product Type
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Genotype
Sex
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Basic Information
Strain Name
Aph1c-flox
Strain ID
CKOCMP-68318-Aph1c-B6J-VC
Gene Name
Product ID
S-CKO-17609
Gene Alias
-
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
9
Phenotype
Document
Application
--
Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Aph1cem1flox/Cya mice (Catalog S-CKO-17609) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000169282
NCBI RefSeq
NM_026674
Target Region
Exon 3
Size of Effective Region
~0.6 kb
Detailed Document
Overview of Gene Research
Aph1c is one of the genes encoding subunits of the gamma-secretase complex. Gamma-secretase is crucial for amyloid beta peptide release and is involved in Notch, N-Cadherin, and potentially other signaling pathways [1]. The gamma-secretase complex consists of at least four subunits: Presenilin, Aph1, Pen2, and Nicastrin. In rodents, Aph1c arose from a duplication of Aph1B [1].
In KO mouse models, Aph1C-/-mice survive into adulthood [1]. However, combined Aph1BC-/-deficiency (mimicking total Aph1B loss in human) causes a mild but significant reduction in amyloid beta precursor protein processing in selective regions of the adult brain [1]. Also, Aph1B/C-gamma-secretase complex is expressed in brain areas relevant to schizophrenia pathogenesis, and Aph1BC-/-mice show accumulation of Nrg1 fragments in the brain, along with pharmacological and behavioral abnormalities reversible by antipsychotic drugs [2].
In conclusion, Aph1c, as a part of the gamma-secretase complex, contributes to amyloid beta precursor protein processing in the brain and is involved in processes relevant to schizophrenia. Gene-knockout mouse models have been valuable in revealing these functions, helping us understand the biological roles of Aph1c in disease-related biological processes.
References：
1. Serneels, Lutgarde, Dejaegere, Tim, Craessaerts, Katleen, Hartmann, Dieter, De Strooper, Bart. 2005. Differential contribution of the three Aph1 genes to gamma-secretase activity in vivo. In Proceedings of the National Academy of Sciences of the United States of America, 102, 1719-24. doi:. https://pubmed.ncbi.nlm.nih.gov/15665098/
2. Dejaegere, T, Serneels, L, Schäfer, M K, D'Hooge, R, De Strooper, B. 2008. Deficiency of Aph1B/C-gamma-secretase disturbs Nrg1 cleavage and sensorimotor gating that can be reversed with antipsychotic treatment. In Proceedings of the National Academy of Sciences of the United States of America, 105, 9775-80. doi:10.1073/pnas.0800507105. https://pubmed.ncbi.nlm.nih.gov/18626010/
Quality Control Standard
Sperm Test
Pre-cryopreservation: Measurement of sperm concentration, determination of sperm viability.
Post-cryopreservation: A vial of cryopreserved sperms is selected for in-vitro fertilization from each batch.
Environmental Standards:SPF
Available Region:Global
Source:Cyagen