C57BL/6JCya-Ift43em1/Cya
Common Name:
Ift43-KO
Product ID:
S-KO-14854
Background:
C57BL/6JCya
Product Type
Age
Genotype
Sex
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Basic Information
Strain Name
Ift43-KO
Strain ID
KOCMP-76411-Ift43-B6J-VA
Gene Name
Product ID
S-KO-14854
Gene Alias
1700019E19Rik
Background
C57BL/6JCya
NCBI ID
Modification
Conventional knockout
Chromosome
12
Phenotype
Document
Application
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Note: When using this mouse strain in a publication, please cite “C57BL/6JCya-Ift43em1/Cya mice (Catalog S-KO-14854) were purchased from Cyagen.”
Strain Description
Ensembl Number
ENSMUST00000222821
NCBI RefSeq
NM_001199843
Target Region
Exon 3
Size of Effective Region
~0.1 kb
Detailed Document
Overview of Gene Research
Ift43, also known as C14ORF179, is a subunit of the IFT-A complex involved in intraflagellar transport (IFT). IFT is crucial for the formation and maintenance of cilia, which play vital roles in signal transduction pathways like the hedgehog pathway, especially important in skeletal development [4,5].
Mutations in Ift43 have been linked to multiple disorders. In a Pakistani family, a novel homozygous mutation in Ift43 caused non-syndromic recessive retinal degeneration, with mutant Ift43 leading to shorter cilia in transfected cells [1]. In Chlamydomonas, an ift43 null or partial-deletion mutant had no or short flagella, and loss of Ift43 resulted in instability of IFT-A [2]. Mutations in Ift43 also led to a form of short rib polydactyly syndrome with distinctive campomelia, disrupting cilia formation and cartilage growth plate architecture [3]. In Sensenbrenner syndrome patients, mutations in Ift43 disturbed retrograde ciliary transport, causing accumulation of IFT-B proteins at the ciliary tip [4].
In conclusion, Ift43 is essential for ciliogenesis and normal ciliary function. Studies on Ift43, especially through loss-of-function models, have revealed its significance in various diseases such as retinal degeneration, short rib polydactyly syndrome, and Sensenbrenner syndrome. These findings help in understanding the underlying mechanisms of these ciliopathy-related disorders.
References:
1. Biswas, Pooja, Duncan, Jacque L, Ali, Muhammad, Riazuddin, S Amer, Ayyagari, Radha. . A mutation in IFT43 causes non-syndromic recessive retinal degeneration. In Human molecular genetics, 26, 4741-4751. doi:10.1093/hmg/ddx356. https://pubmed.ncbi.nlm.nih.gov/28973684/
2. Zhu, Bing, Zhu, Xin, Wang, Limei, Feng, Qianqian, Pan, Junmin. 2017. Functional exploration of the IFT-A complex in intraflagellar transport and ciliogenesis. In PLoS genetics, 13, e1006627. doi:10.1371/journal.pgen.1006627. https://pubmed.ncbi.nlm.nih.gov/28207750/
3. Duran, Ivan, Taylor, S Paige, Zhang, Wenjuan, Cohn, Daniel H, Krakow, Deborah. 2017. Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia. In Cilia, 6, 7. doi:10.1186/s13630-017-0051-y. https://pubmed.ncbi.nlm.nih.gov/28400947/
4. Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, Knoers, Nine V A M, Roepman, Ronald. 2011. C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. In Journal of medical genetics, 48, 390-5. doi:10.1136/jmg.2011.088864. https://pubmed.ncbi.nlm.nih.gov/21378380/
5. Huber, Celine, Cormier-Daire, Valerie. 2012. Ciliary disorder of the skeleton. In American journal of medical genetics. Part C, Seminars in medical genetics, 160C, 165-74. doi:10.1002/ajmg.c.31336. https://pubmed.ncbi.nlm.nih.gov/22791528/
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