|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20|
|Chromosomal Location||94,270,163-94,465,418 bp (-)|
FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate an active protease. Certain mutations in this gene cause defective development of neural crest-derived melanoblasts resulting in a "belted" phenotype that is characterized by white spots in the lumbar region. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for spontaneous or ENU-induced mutations exhibit abnormal coat/hair pigmentation, including a typical white belt phenotype. [provided by MGI curators]
|Amino Acid Change|
|Institutional Source||Beutler Lab|
Ensembl: ENSMUSP00000036330 (fasta)
|Gene Model||not available|
|Phenotypic Category||Autosomal Recessive|
|Alleles Listed at MGI|
|Mode of Inheritance||Autosomal Recessive|
|Last Updated||2016-05-13 3:09 PM|
Homozygous whitebelly mice exhibit a white spot on the belly. The size of the belly spot in whitebelly mice is smaller than the spot observed in splotch2 animals and never extends to form a belt.
|Nature of Mutation|
Whitebelly was found to be allelic with splotch2, an ENU induced allele of the Adamts20 gene, in which a mutation responsible for the classical belted phenotype was identified (1).
Please see the record for splotch2 for more information about Adamts20.
|Primers||Primers cannot be located by automatic search.|
|Science Writers||Nora G. Smart|
|Authors||Phillippe Georgel, Karine Crozat, Bruce Beutler|