The protein encoded by the <i>Ehd1</i> (EH-domain containing 1) gene contains a protein-binding EH (EPS15 homology) domain and has a role in early endocytic membrane fusion and membrane trafficking of recycling endosomes.  Mice that are homozygous for this targeted mutation are viable and fertile.  No gene product (protein) is detected by Western blot analysis of lung, heart, testis and skeletal muscle from homozygous mice.  However, a truncated 64kDa protein is detected by Western blot analysis of brain tissue from homozygous mice.  No gene product (mRNA) is detected in primary mouse embryonic fibroblasts (MEFs) from homozygotes by RT-PCR.  <i>Ehd1</i> deficient MEFs plated on fibronectin have impaired migration and cell spreading.  MEFs from homozygotes also exhibit impaired transferrin recycling, lower overall levels of beta-1 integrins on the plasma membrane, abnormal focal adhesion formation, and lower cellular cholesterol and reduced lipid droplet size.

Mouse embryonic fibroblasts (MEFs) from mice homozygous for this targeted mutation exhibit impaired migration, cell spreading, transferrin recycling and reduced cholesterol levels.  These mice may be useful in studies of endocytic transport, intracellular trafficking and recycling of membrane proteins, and cholesterol homeostasis.

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