RGD Reference Report - Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Authors: Zhao, C  Takita, J  Tanaka, Y  Setou, M  Nakagawa, T  Takeda, S  Yang, H W  Terada, S  Nakata, T  Takei, Y  Saito, M  Tsuji, S  Hayashi, Y  Hirokawa, N 
Citation: Zhao C, etal., Cell. 2001 Jun 1;105(5):587-97.
RGD ID: 12738406
Pubmed: PMID:11389829   (View Abstract at PubMed)

The kinesin superfamily motor protein KIF1B has been shown to transport mitochondria. Here, we describe an isoform of KIF1B, KIF1Bbeta, that is distinct from KIF1B in its cargo binding domain. KIF1B knockout mice die at birth from apnea due to nervous system defects. Death of knockout neurons in culture can be rescued by expression of the beta isoform. The KIF1B heterozygotes have a defect in transporting synaptic vesicle precursors and suffer from progressive muscle weakness similar to human neuropathies. Charcot-Marie-Tooth disease type 2A was previously mapped to an interval containing KIF1B. We show that CMT2A patients contain a loss-of-function mutation in the motor domain of the KIF1B gene. This is clear indication that defects in axonal transport due to a mutated motor protein can underlie human peripheral neuropathy.




  
Object Symbol
Species
Term
Qualifier
Evidence
With
Notes
Source
Original Reference(s)
KIF1BHumanCharcot-Marie-Tooth disease type 2A1  IAGP DNA:missense mutation:cds:p.Q98L (human)RGD 
Kif1bRatCharcot-Marie-Tooth disease type 2A1  ISOKIF1B (Homo sapiens)DNA:missense mutation:cds:p.Q98L (human)RGD 
Kif1bMouseCharcot-Marie-Tooth disease type 2A1  ISOKIF1B (Homo sapiens)DNA:missense mutation:cds:p.Q98L (human)RGD 


Genes (Rattus norvegicus)
Kif1b  (kinesin family member 1B)

Genes (Mus musculus)
Kif1b  (kinesin family member 1B)

Genes (Homo sapiens)
KIF1B  (kinesin family member 1B)