IFT140 , Intraflagellar transport 140 homolog , is a protein that in humans is encoded by the IFT140 gene .
Clinical significance Mutations in this gene have been associated to cases of skeletal ciliopathy .[1]
Model organisms Model organisms have been used in the study of IFT140 function. A conditional knockout mouse line called Ift140tm1a(KOMP)Wtsi was generated at the Wellcome Trust Sanger Institute .[2] phenotypic screen [3] [4] [5] [6] [7] [8]
Ift140 knockout mouse phenotype
Characteristic
Phenotype
All data available at.[3] [8]
Peripheral blood leukocytes 6 Weeks
Normal
Haematology Normal
Insulin
Normal
Homozygous viability at P14
Abnormal
Recessive lethal studyAbnormal
Body weight
Normal
Neurological assessment
Normal
Grip strength
Normal
Dysmorphology Normal
Indirect calorimetry Normal
Glucose tolerance test Normal
Auditory brainstem response Normal
DEXA Normal
Radiography Normal
Eye morphology
Normal
Clinical chemistry Normal
Haematology Normal
Peripheral blood leukocytes 16 Weeks
Normal
Heart weight
Normal
Salmonella Normal
Cytotoxic T Cell Function
Normal
Spleen Immunophenotyping
Normal
Mesenteric Lymph Node Immunophenotyping
Normal
Bone Marrow Immunophenotyping
Normal
Epidermal Immune Composition
Normal
Influenza Challenge
Normal
References
↑ Schmidts M, Frank V, Eisenberger T, Al Turki S, Bizet AA, Antony D, Rix S, Decker C, Bachmann N, Bald M, Vinke T, Toenshoff B, Di Donato N, Neuhann T, Hartley JL, Maher ER, Bogdanović R, Peco-Antić A, Mache C, Hurles ME, Joksić I, Guć-Šćekić M, Dobricic J, Brankovic-Magic M, Bolz HJ, Pazour GJ, Beales PL, Scambler PJ, Saunier S, Mitchison HM, Bergmann C (May 2013). "Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease" . Human Mutation . 34 (5): 714–24. doi :10.1002/humu.22294 . PMC 4226634 PMID 23418020 . ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica . 88 : 925–7. doi :10.1111/j.1755-3768.2010.4142.x . ↑ 3.0 3.1 "International Mouse Phenotyping Consortium" .↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function" . Nature . 474 (7351): 337–42. doi :10.1038/nature10163 . PMC 3572410 PMID 21677750 . ↑ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature . 474 (7351): 262–3. doi :10.1038/474262a . PMID 21677718 . ↑ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell . 128 (1): 9–13. doi :10.1016/j.cell.2006.12.018 . PMID 17218247 . ↑ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes" . Cell . 154 (2): 452–64. doi :10.1016/j.cell.2013.06.022 . PMC 3717207 PMID 23870131 . ↑ 8.0 8.1 "Infection and Immunity Immunophenotyping (3i) Consortium" .
