The genetic defect of the alkaptonuric mouse (aku)

The genetic defect of the alkaptonuric mouse (aku) Short Communications Incorporating Mouse Genome Mammalian Genome 10, 68–70 (1999). © Springer-Verlag New York Inc. 1999 1 1 1 2 1 W. Kress, S.R. Schmidt, B. Halliger-Keller, X. Montagutelli, C.R. Mu ¨ ller Department of Human Genetics, University of Wu ¨ rzburg, Biozentrum, Am Hubland, D-97074 Wu ¨ rzburg, Germany Unite´de Ge ´ne ´tique des Mammife `res, Institut Pasteur, F-75015 Paris, France Received: 29 June 1998 / Accepted: 20 August 1998 Alkaptonuria is the classical metabolic disorder in humans. At the not shown), indicating that no stable protein is being produced in dawn of modern genetics, the pathognomonic urina nigra that is the mutant. excreted by the patients led A.E. Garrod to hypothesize on a spe- Messenger RNA was prepared from livers of aku/aku and cific block in one of the (bio)chemical steps required for the deg- wild-type mice and reverse transcribed by RT-PCR. The complete radation of phenylalanine and tyrosine. The compound had been HGO-cDNA was amplified in three segments. For the 38 part of identified earlier as a derivative of tyrosine, 2,5 dihydroxyphenyl- the gene, a truncated product was obtained corresponding to a acetic acid (4 homogentisic acid, HGA). From the high rate of deletion of about Mammalian Genome Springer Journals

The genetic defect of the alkaptonuric mouse (aku)

Loading next page...
Copyright © 1999 by Springer-Verlag New York Inc.
Life Sciences; Cell Biology; Animal Genetics and Genomics; Human Genetics
Publisher site
See Article on Publisher Site

There are no references for this article.

You’re reading a free preview. Subscribe to read the entire article.

DeepDyve is your
personal research library

It’s your single place to instantly
discover and read the research
that matters to you.

Enjoy affordable access to
over 12 million articles from more than
10,000 peer-reviewed journals.

All for just $49/month

Explore the DeepDyve Library

Unlimited reading

Read as many articles as you need. Full articles with original layout, charts and figures. Read online, from anywhere.

Stay up to date

Keep up with your field with Personalized Recommendations and Follow Journals to get automatic updates.

Organize your research

It’s easy to organize your research with our built-in tools.

Your journals are on DeepDyve

Read from thousands of the leading scholarly journals from SpringerNature, Elsevier, Wiley-Blackwell, Oxford University Press and more.

All the latest content is available, no embargo periods.

See the journals in your area

Monthly Plan

  • Read unlimited articles
  • Personalized recommendations
  • No expiration
  • Print 20 pages per month
  • 20% off on PDF purchases
  • Organize your research
  • Get updates on your journals and topic searches


Start Free Trial

14-day Free Trial

Best Deal — 39% off

Annual Plan

  • All the features of the Professional Plan, but for 39% off!
  • Billed annually
  • No expiration
  • For the normal price of 10 articles elsewhere, you get one full year of unlimited access to articles.



billed annually
Start Free Trial

14-day Free Trial