|Institutional Source||Beutler Lab|
|Gene Name||a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13|
|Synonyms||vWF-CP mRNA for von Willebrand factor-cleaving, LOC279028|
|Is this an essential gene?||Probably non essential (E-score: 0.139)|
|Stock #||R5126 (G1)|
|Chromosomal Location||26973416-27009628 bp(+) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||G to A at 26996915 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000099955 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014996] [ENSMUST00000102891]|
|Coding Region Coverage||
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. In certain mouse strains (C57BL/6, for example) an intracisternal A-type particle (IAP) retrotransposon sequence is located in the intron 23 that causes an alternate splicing event resulting in a shorter transcript variants encoding shorter isoforms. The encoded preproprotein undergoes proteolytic processing to generate an active enzyme that cleaves von Willebrand factor (VWF) in circulating blood. [provided by RefSeq, Jul 2016]
PHENOTYPE: Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Adamts13||
(F):5'- TTCAGGTGGGAGACTCAAGTC -3'
(R):5'- CCAGGAGTTGTGATACACACTTC -3'
(F):5'- ACTCAAGTCTTGGCACCGTG -3'
(R):5'- ACACACTTCTGAGGATCTCTGTGAG -3'