protein
| SNARE-complex protein HRS |
|
14-3-3, and Casein kinase II beta-subunit |
|
Troponin I |
|
Hepatocyte growth factor–regulated tyrosine kinase substrate (HRS) |
|
Cterminus of calmodulin (CALM) |
|
C-terminal half of a steroid hormone receptor, estrogen receptor-related protein (ERR1) |
|
C-terminal halves of the importin beta-subunit, imogen 38, and norbin |
|
DiGeorge syndrome critical region gene 14 (DGS-I) |
|
LIP1-LIP9 |
|
atrophin-1 |
|
embryonic Fyn substrate-1 (EFS1) |
|
the N-terminus of OPA-containing protein heterogeneous nuclear riboprotein M4 |
| mutation in beige gene, a homologue of the gene for the human disorder Chediak-Higashi syndrome, in mouse results in hypopigmentation, bleeding and immune cell dysfunction (Perou 1996) | |
murine mutant Lyst allele (bg-grey) found in an ENU mutation screen exhibits melanosomes of melanocytes associated with hair follicles and the choroid layer of the eye and melanosomes in the neural tube-derived pigment epithelium of the retina. Secretory vesicles in dermal mast cells of the mutant skin were enlarged. Double heterozygotes (Lyst(bg)/Lyst(bg-grey)) were phenotypically indistinguishable from either homozygous Lyst(bg) or Lyst(bg-grey) (Runkel 2006) |
|
Lyst mutant mice uniformly exhibit exfoliation syndrome-like transillumination defects : sawtooth morphology of the iris pigment epithelium, produce an exfoliative-like material and pronounced pigment dispersion (Trantow 2009) |