Positional Cloning of cobblestone, a Mouse Mutant Showing Major Defects in Brain Development, Identifies Ift88 as a Candidate Gene

The ENU-induced cobblestone (cbs) mouse mutant exhibits severe defects in fore- and midbrain development. Via genomic mapping, the causative mutation for the cbs-phenotype has previously been located on chromosome 14 in the proximity of the gene Ift88 (Intraflagellar transport, 88 kDa). The Ift88 pr...

Full description

Bibliographic Details
Published in:	Impulse: The Premier Undergraduate Neuroscience Journal
Main Authors:	Marc A. Willaredt, Valentin Evsyukov, Kerry L. Tucker
Format:	Article
Language:	English
Published:	Appalachian State University Honors College 2010-03-01
Subjects:	cortex heterotopia Ift88 intraflagellar transport primary cilia SNP
Online Access:	http://impulse.appstate.edu/sites/impulse.appstate.edu/files/2010EvsyukovFinal2MAR10.pdf

Similar Items

Dynein-2–driven intraciliary retrograde trafficking indirectly requires multiple interactions of IFT54 in the IFT-B complex with the dynein-2 complex
by: Shunya Hiyamizu, et al.
Published: (2023-07-01)

Primary cilia-associated protein IFT172 in ciliopathies
by: Nan-Xi Zheng, et al.
Published: (2023-01-01)

Structural insights into the architecture and assembly of eukaryotic flagella
by: Narcis-Adrian Petriman, et al.
Published: (2020-09-01)

Testing the ion-current model for flagellar length sensing and IFT regulation
by: Hiroaki Ishikawa, et al.
Published: (2023-01-01)

The roles of intraflagellar transport (IFT) protein 25 in mammalian signaling transduction and flagellogenesis
by: Yong-Hong Man, et al.
Published: (2022-01-01)

Assembly and mother centriole recruitment of IFT-B subcomplexes to form IFT-B holocomplex
by: Koshi Tasaki, et al.
Published: (2025-06-01)

Intraflagellar transport proteins are involved in thrombocyte filopodia formation and secretion
by: Uvaraj Radhakrishnan, et al.
Published: (2018-11-01)

The retrograde IFT dynein is required for normal function of diverse mechanosensory cilia in Drosophila
by: Yashoda Sharma, et al.
Published: (2023-09-01)

Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex
by: Caitlyn L McCafferty, et al.
Published: (2022-11-01)

Alteration of primary cilia and intraflagellar transport 20 (IFT20) expression in oral squamous cell carcinoma (OSCC) cell lines
by: Gulam Sakinah-Syed, et al.
Published: (2025-02-01)

Ciliary length regulation by intraflagellar transport in zebrafish
by: Yi Sun, et al.
Published: (2024-12-01)

Leucine-rich repeat-containing 56 promotes breast cancer progression via modulation of the RhoA/ROCKs signaling axis
by: Xiqian Zhou, et al.
Published: (2025-05-01)

The Effect of IFT80 Deficiency in Osteocytes on Orthodontic Loading-Induced and Physiologic Bone Remodeling: In Vivo Study
by: Hyeran Helen Jeon, et al.
Published: (2022-07-01)

The role of cilia in the development, survival, and regeneration of hair cells
by: Hope Boldizar, et al.
Published: (2024-09-01)

Constructing condylar cartilage organoid to explore primary cilia functions
by: Zhan Liu, et al.
Published: (2024-09-01)

Early increased cell proliferation compensates subsequent hypoplasia of the ossicle
by: Katsushige Kawasaki, et al.
Published: (2025-10-01)

The role of retrograde intraflagellar transport genes in aminoglycoside-induced hair cell death
by: Tamara M. Stawicki, et al.
Published: (2019-01-01)

Single molecule imaging reveals a major role for diffusion in the exploration of ciliary space by signaling receptors
by: Fan Ye, et al.
Published: (2013-08-01)

Distinct Activities of Gli1 and Gli2 in the Absence of Ift88 and the Primary Cilia
by: Yuan Wang, et al.
Published: (2019-02-01)

Mice with lung airway ciliopathy develop persistent Mycobacterium abscessus lung infection and have a proinflammatory lung phenotype associated with decreased T regulatory cells
by: Audrey Nava, et al.
Published: (2022-11-01)

Loss of Kat2b impairs intraflagellar transport and the Hedgehog signaling pathway in primary cilia
by: Jae Hee Jun, et al.
Published: (2025-01-01)

Mechanisms of Regulation in Intraflagellar Transport
by: Wouter Mul, et al.
Published: (2022-09-01)

A WDR35-dependent coat protein complex transports ciliary membrane cargo vesicles to cilia
by: Tooba Quidwai, et al.
Published: (2021-11-01)

Paralog-specific TTC30 regulation of Sonic hedgehog signaling
by: Felix Hoffmann, et al.
Published: (2023-11-01)

Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome
by: Damon T. Jacobs, et al.
Published: (2016-07-01)

Hedgehog Morphogens Act as Growth Factors Critical to Pre- and Postnatal Cardiac Development and Maturation: How Primary Cilia Mediate Their Signal Transduction
by: Lindsey A. Fitzsimons, et al.
Published: (2022-06-01)

Characterizing the ADPKD-IFT140 Phenotypic Signature With Deep Learning and Advanced Imaging Biomarkers
by: Ahmad Ghanem, et al.
Published: (2025-08-01)

Loss of intraflagellar transport 140 in osteoblasts cripples bone fracture healing
by: Qiqi Fan, et al.
Published: (2025-07-01)

Specialized Cilia in Mammalian Sensory Systems
by: Nathalie Falk, et al.
Published: (2015-09-01)

Identifying RNA splicing factors using IFT genes in Chlamydomonas reinhardtii
by: Huawen Lin, et al.
Published: (2018-03-01)

Surfactant enhanced imbibition in carbonate reservoirs: Effect of IFT reduction and surfactant partitioning
by: Ziyuan Qi, et al.
Published: (2022-04-01)

Roles for IFT172 and Primary Cilia in Cell Migration, Cell Division, and Neocortex Development
by: Michal Pruski, et al.
Published: (2019-11-01)

The role of IFT20 mediated by neuropeptide FILa1 in ciliary activity during larval settlement of Urechis unicinctus
by: Long Zhang, et al.
Published: (2025-04-01)

IFTS: E' solo un'altra sigla oppure un'opportunità per i giovani ed il mondo del lavoro?
by: Wladimiro Iozzi
Published: (2016-01-01)

Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome
by: Benjamin M. Helm, et al.
Published: (2017-07-01)

Temporal ablation of the ciliary protein IFT88 alters normal brainwave patterns
by: Matthew R. Strobel, et al.
Published: (2025-01-01)

COMPARISON OF THE EFFECTIVENESS OF TRANSCUTANEOUS ELECTRICAL NERVE STIMULATION (TENS) VS. INTERFERENTIAL THERAPY (IFT) FOR RELIEF OF PAIN IN PRIMARY DYSMENORRHEA
by: Mayur Tukaram Revadkar, et al.
Published: (2019-12-01)

Immersed-Prism TIRF Microscopy for Visualizing Intraflagellar Transport in Live Cells
by: Maya Chauhan, et al.
Published: (2025-10-01)

Haploinsufficiency of intraflagellar transport protein 172 causes autism-like behavioral phenotypes in mice through BDNF
by: Nanxi Zheng, et al.
Published: (2025-07-01)

Associations of IFT20 and GM130 protein expressions with clinicopathological features and survival of patients with lung adenocarcinoma
by: Lianfeng Li, et al.
Published: (2022-07-01)