C57BL/6JCya-Pafah1b1em1flox/Cya
Common Name:
Pafah1b1-flox
Product ID:
S-CKO-04154
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Pafah1b1-flox
Strain ID
CKOCMP-18472-Pafah1b1-B6J-VA
Gene Name
Product ID
S-CKO-04154
Gene Alias
LIS-1; Lis1; MMS10-U; Mdsh; Ms10u; Pafaha
Background
C57BL/6JCya
NCBI ID
Modification
Conditional knockout
Chromosome
11
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Pafah1b1em1flox/Cya mice (Catalog S-CKO-04154) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000021091
NCBI RefSeq
NM_013625
Target Region
Exon 3~4
Size of Effective Region
~2.2 kb
Detailed Document
Overview of Gene Research
PAFAH1B1, also known as LIS1, is a gene crucial for neurogenesis [1,3]. It regulates neuronal migration by controlling microtubules and cargo transport via dynein and is involved in the reelin signaling pathway [1]. It's of great significance in brain development and associated with severe neurodevelopmental disorders [1].
In Pafah1b1+/- mice, tangential migration of young GABAergic interneurons into the developing hippocampus is slowed, leading to a decreased density of parvalbumin-and somatostatin-positive interneurons in the dentate gyrus. There are increased excitatory and decreased inhibitory synaptic inputs onto granule cells, resulting in spontaneous electrographic seizures and long-term deficits in contextual memory. These phenotypes may contribute to epilepsy or cognitive impairments associated with lissencephaly [2].
In conclusion, PAFAH1B1 plays an essential role in neuronal migration and the balance of synaptic excitation and inhibition in the brain. The study of Pafah1b1+/- mouse models has revealed its critical role in neurodevelopmental processes and provided insights into lissencephaly-related epilepsy and cognitive deficits.
References:
1. Liu, Xiaonan, Bennison, Sarah A, Robinson, Lozen, Toyo-Oka, Kazuhito. 2021. Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε). In Brain sciences, 12, . doi:10.3390/brainsci12010056. https://pubmed.ncbi.nlm.nih.gov/35053800/
2. Dinday, Matthew T, Girskis, Kelly M, Lee, Sunyoung, Baraban, Scott C, Hunt, Robert F. 2017. PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus. In Scientific reports, 7, 8269. doi:10.1038/s41598-017-08809-x. https://pubmed.ncbi.nlm.nih.gov/28811646/
3. Josipovic, I, Fork, C, Preussner, J, Brandes, R P, Leisegang, M S. 2016. PAFAH1B1 and the lncRNA NONHSAT073641 maintain an angiogenic phenotype in human endothelial cells. In Acta physiologica (Oxford, England), 218, 13-27. doi:10.1111/apha.12700. https://pubmed.ncbi.nlm.nih.gov/27124368/
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