General Information:

Id: 5,861
Diseases: Bardet-Biedl syndrome 19 - [OMIM]
Diabetes mellitus, type II - [OMIM]
Insulin resistance
Mus musculus
Ift27(null1) mouse
article
Reference: Eguether T et al.(2014) IFT27 links the BBSome to IFT for maintenance of the ciliary signaling compartment Dev. Cell 31: 279-290 [PMID: 25446516]

Interaction Information:

Comment Vertebrate hedgehog signaling is coordinated by the differential localization of the receptors patched-1 and Smoothened in the primary cilium. Cilia assembly is mediated by intraflagellar transport (IFT), and cilia defects disrupt hedgehog signaling, causing many structural birth defects. Ift25 and Ift27 knockout mice show structural birth defects indicative of hedgehog signaling dysfunction.
Formal Description
Interaction-ID: 55401

gene/protein

IFT27

affects_activity of

Comment Like Ift25, Ift27 mutants had a high incidence of omphaloceles or umbilical cord hernias.
Formal Description
Interaction-ID: 55404

gene/protein

IFT27

affects_activity of

phenotype

omphalocele

Comment Polydactyly and other digit defects were observed in the Ift27 mutants. In contrast to the Ift25 mutant in which only preaxial duplication of digit 1 was observed, the Ift27 animals also showed central polydactyly and syndactyly. Ift27 mutants occasionally exhibited abnormal flexure of the wrists, resulting in a clubbing phenotype (talipomanus).
Formal Description
Interaction-ID: 55405

gene/protein

IFT27

affects_activity of

phenotype

polydactyly

Comment The Ift27 animals showed a small lower jaw (micrognathia) of varying severity, most animals had an abnormally shaped nose with closely spaced eyes (hypotelorism).
Formal Description
Interaction-ID: 55407

gene/protein

IFT27

affects_activity of

phenotype

micrognathia

Comment The Ift27 animals showed a small lower jaw (micrognathia) of varying severity, most animals had an abnormally shaped nose with closely spaced eyes (hypotelorism).
Formal Description
Interaction-ID: 55409

gene/protein

IFT27

affects_activity of

Comment The Ift27 animals showed a small lower jaw (micrognathia) of varying severity, most animals had an abnormally shaped nose with closely spaced eyes (hypotelorism).
Formal Description
Interaction-ID: 55410

gene/protein

IFT27

affects_activity of

Comment The Ift27 mutants developed various malformations of the tongue that ranged from aglossia (lack of tongue development) to microglossia (abnormally small tongue) to the tongue being abnormally attached to the floor of the oral cavity.
Formal Description
Interaction-ID: 55411

gene/protein

IFT27

affects_activity of

Comment Like Ift25, Ift27 mutants had malaligned sternal vertebrae and malformed ribs, yielding an abnormally shaped chest cavity.
Formal Description
Interaction-ID: 55412

gene/protein

IFT27

affects_activity of

Comment Similar to Ift25 mutants, lung isomerisms and other structural respiratory tract abnormalities were prevalent in Ift27 mutants. Fusions between the trachea and esophagus (tracheoesophageal fistulas; TEFs) were found in many Ift27 mutants. The Ift27 mutant lungs often contained a large abnormal balloon-like cavity.
Formal Description
Interaction-ID: 55413

gene/protein

IFT27

affects_activity of

Comment Similar to Ift25 mutants, lung isomerisms and other structural respiratory tract abnormalities were prevalent in Ift27 mutants. Fusions between the trachea and esophagus (tracheoesophageal fistulas; TEFs) were found in many Ift27 mutants. The Ift27 mutant lungs often contained a large abnormal balloon-like cavity.
Formal Description
Interaction-ID: 55414

gene/protein

IFT27

affects_activity of

Comment Cardiac malformations were found in all Ift27 mutants. Similar to the Ift25 animals, a double-outlet right ventricle was observed, which was associated with hypoplasia of the pulmonary trunk. The Ift27 mutants, similar to the Ift25 mutants, showed partial or complete atrioventricular septal defects (AVSDs) that reflect defects in development of the endocardial cushions. This resulted in a single orifice with common AV valves formed instead of separate tricuspid and mitral valves required for separation of the right atrium/right ventricle from the left atrium/left ventricle. In mutants with partial AVSD, the atrioventricular orifice is asymmetrically positioned to favor one ventricle. These defects are also associated with a common atrium due to complete failure in atrial septum formation. In addition, one mutant exhibited a pulmonary artery defect where a long common artery extended from the pulmonary trunk, and aortic arch anomalies were also observed with one mutant exhibiting a double arch forming a vascular ring. The latter phenotype was observed in conjunction with TEFs. As with the Ift25 mutants, Ift27 mutant animals likely die neonatally from these severe congenital heart defects.
Formal Description
Interaction-ID: 55415

gene/protein

IFT27

affects_activity of

Comment The Ift27 mutant animals show a variety of left-right patterning defects characterized by heterotaxy with randomization of visceral organ situs. Defects include malpositioning of the stomach (dextrogastria), liver isomerisms, and cardiac malformations. Laterality defects of the heart include abnormal positioning of the organ (dextrocardia and mesocardia), right atrial isomerism, and duplication of the inferior vena cava.
Formal Description
Interaction-ID: 55417

gene/protein

IFT27

affects_activity of

Comment IFT27 is not required for IFT25 stability but is required for IFT25 entry into cilia.
Formal Description
Interaction-ID: 55419

gene/protein

IFT27

increases_transport of

gene/protein

HSPB11

into the primary cilium
Comment Ift27 mutants accumulate BBS proteins in cilia. The data suggest that the BBSome enters cilia independent of IFT25/IFT27 but requires them for removal.
Formal Description
Interaction-ID: 55420

gene/protein

IFT27

affects_quantity of

complex/PPI

BBSome

in primary cilium