IHS / IB Biology
OMIM.org Tutorial
1) Cruise a chromosome!
Select Advanced Search: Gene Map
Check a human chromosome – your choice! Hit Search at bottom of screen.
How many OMIM Gene/Loci are on that chromosome?
The button Show 10 or Show 100 allows you to toggle back and forth between how many genes
are displayed on the screen at one time. Have it display 100 genes.
Scan the first 100 entries. The display begins on the p or shortest arm of the chromosome you
picked, and it starts you at the very tip or terminus – i.e. pter. As you press Towards qter, you are
moving down the chromosome towards the terminus of the q or long arm. Feel free to see more
entries.
Notice: does every identified Gene/Locus have a Phenotype? A known mode of Inheritance? A
model that can be studied in a Mouse?
Hover the computer's mouse over the single digit number in the Pheno Map Key column. What
do the numbers 1, 2, 3 or 4 mean?
Pick a Gene/Locus on the screen that has a Phenotype with which you are familiar. Click on its
six-digit Phenotype MIM number to read about it.
(2) Locate a locus!
Go back to the home screen and click on Advanced Search: Gene Map again.
Enter the symbol of one of the genes below and Search. On what chromosome is the gene?
To see nearby genes, click on the number in Genomic Context Table – anything interesting in the
neighborhood?
Go back to your gene. When mutated, with what "famous" phenotype(s) is it associated? What
else can you understand in the text?
DRD4
CFTR
HBB
F8
SRY
HTT
(3) If there's extra time…
…You can return to the home screen and try a general search for an inherited condition that
interests you (a friend has it, it runs in your family, etc.). Be forewarned: you'll probably pull up
thousands of entries… Or investigate other aspects of this resource! The FAQs (under Help
menu) may answer some of your questions.