Navigation Links
Mouse model provides a new tool for investigators of human developmental disorder
Date:4/20/2009

April 21, 2009, Cambridge, UK Wolf-Hirschhorn Syndrome (WHS) is a human disease caused by spontaneous genetic deletions. Children born with WHS have a characteristic set of facial features, including a wide flat nose bridge, downturned mouth, high forehead, and highly arched eyebrows. Other symptoms associated with this disease include heart defects, seizures, mental retardation, and skeletal abnormalities, and the severity of these symptoms varies between individual WHS patients.

While it was known that WHS is related to a genetic deletion in chromosome 4, the specific gene or genes affected were unknown. Now, a study by scientists at the European Molecular Biology Laboratory demonstrates that a gene called Fgfrl1 (Fibroblast growth factor receptor-like 1) plays a key role in WHS.

This report published in Disease Models & Mechanisms (DMM), dmm.biologists.org describes how they modify the Fgrfrl1 gene so that it loses function, then express the gene in mice. Fgfrl1 in humans is located on the short arm of chromosome 4 and mice born with the modified Fgfrl1 gene have a variety of physical features that are similar to characteristics seen in WHS patients. For example, the mice are born with heart defects due to thickening of the cardiac valves, and they have abnormal facial and skeletal structures compared to normal mice. The mutant mice also have deformities in throat cartilage structures, which may provide insight to the swallowing and speaking difficulties experienced by many WHS patients.

This mouse model of WHS provides a valuable new tool for researchers studying this developmental disorder. It provides a new avenue for molecular research through study of Fgrf1 function, but also allows scientists to understand how structural defects might contribute to WHS symptoms, as is the case in the heart defects and swallowing difficulties.

The report, "Multiple congenital malformations of Wolf-Hirschhorn syndrome are recapitulated in Fgfrl1 null mice" was written by Catarina Catela, Daniel Bilbao-Cortes, Esfir Slonimsky, Paschalis Kratsios, Nadia Rosenthal and Pascal te Welscher of the European Molecular Biology Laboratory in Monterotondo, Italy. The report is published in the May/June issue of Disease Models & Mechanisms (DMM), a research journal published by The Company of Biologists, a non-profit based in Cambridge, UK.


'/>"/>

Contact: Donna Perry
donna@biologists.com
44-012-234-33319
The Company of Biologists
Source:Eurekalert

Related biology news :

1. CSHL team develops mouse models of leukemia that predict response to chemotherapy
2. Brain building: Study shows brain growth tied to cell division in mouse embryos
3. A worm-and-mouse tale: B cells deserve more respect
4. Salk researchers develop novel glioblastoma mouse model
5. Peering inside the skull of a mouse to solve meningitis mystery
6. Multiple sclerosis research charges ahead with new mouse model of disease
7. Anti-cancer drug prevents, reverses cardiovascular damage in mouse model of premature aging disorder
8. Anything but modest: The mouse continues to contribute to humankind
9. Let the cat keep chasing the mouse
10. Mouse model developed at UT Southwestern mimics hyperglycemia, aids in diabetes research
11. Disabling mouse enzyme increases fertility
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:1/20/2016)... MINNETONKA, Minn. , Jan. 20, 2016   ... that supports the entire spectrum of clinical research, is ... in 2015. MedNet,s significant achievements are the result of ... of) iMedNet eClinical , it,s comprehensive, ... --> --> Key MedNet growth ...
(Date:1/15/2016)... , Jan. 15, 2016 Recent publicized ... small to find new ways to ensure data security ... iOS and Android that ties ... biometrics, transforming it into a hardware authorization token. Customer ... swipe their fingerprint on their KodeKey enabled device to ...
(Date:1/11/2016)... Jan. 11, 2016 Synaptics Incorporated (NASDAQ: ... today announced that its ClearPad ® TouchView ™ ... won two separate categories in the 8 th ... Best Technology Breakthrough. The Synaptics ® TDDI solution ... supply chain, thinner devices, brighter displays and borderless designs. ...
Breaking Biology News(10 mins):
(Date:2/12/2016)... SAN DIEGO , Feb. 12, 2016 Biocom, ... life science community, took a group of San ... as part of its 2016 Precision Medicine Advocacy Fly-In. ... at the Food and Drug Administration (FDA), the Centers for ... (NIH), as well as San Diego U.S. Representatives Susan ...
(Date:2/12/2016)... MedGenome,s Commitment Will Help ... of Complex Diseases Such as Cancer, Metabolic Disorders, ... --> --> MedGenome, the market ... leading provider of genomics research services globally, today ... GenomeAsia 100K consortium as a founding member. ...
(Date:2/11/2016)... Germany and GERMANTOWN, Maryland ... QGEN ; Frankfurt Prime Standard: QIA) today announced the ... Panels for gene expression profiling, expanding QIAGEN,s portfolio of ... panels enable researchers to select from over 20,000 human ... discover interactions between genes, cellular phenotypes and disease processes. ...
(Date:2/11/2016)... ... February 11, 2016 , ... ... delivering cutting-edge information focused on the development and manufacture of biopharmaceuticals and ... premier sponsor of the 2016 BioProcess International Awards – Recognizing Excellence in ...
Breaking Biology Technology: