Adamts13^s
Spontaneous Allele Detail

Summary

• Symbol: Adamts13^s
• Name: ADAM metallopeptidase with thrombospondin type 1 motif 13; short
• MGI ID: MGI:3579136
• Synonyms: mADAMTS13S
• Gene: Adamts13 Location: Chr2:26863428-26899640 bp, + strand Genetic Position: Chr2, 19.14 cM
• Alliance: Adamts13^s page

Mutation origin

• Strain of Origin: various

Mutation description

• Allele Type: Spontaneous
• Mutation: Transposon insertion
• Mutation details: Sequence analysis revealed a 6-kb intracisternal A particle (IAP) retrotransposon present in strains C57BL/6, BALB/c, C3H/He and DBA/2 but not present in 129/Sv. The locus in 129/Sv encodes a protein containing 1,426 amino acid residues that have the same domain structure as human ADAMTS13, while the mutant allele results in a shorter protein including 1,037 amino acids, where the C-terminal two TSP1 and two CUB domains are replaced with the 16-amino acid sequence ALVWEAAPTFAVTRWR, derived from the IAP. Splicing exon 23 to pseudo-exon 24, containing a premature stop codon, results in the loss of the original 3' end of the transcript. (J:98410, J:145400)
• Inheritance: Not Specified

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Adamts13 Mutation: 68 strains or lines available

References

• Original: J:98410 Banno F, et al., Identification of strain-specific variants of mouse Adamts13 gene encoding von Willebrand factor-cleaving protease. J Biol Chem. 2004 Jul 16;279(29):30896-903
• All: 4 reference(s)