Adamts20^sp2
Chemically induced Allele Detail

Summary

• Symbol: Adamts20^sp2
• Name: ADAM metallopeptidase with thrombospondin type 1 motif 20; splotch2
• MGI ID: MGI:3774131
• Gene: Adamts20 Location: Chr15:94166177-94329966 bp, - strand Genetic Position: Chr15, 48.2 cM
• Alliance: Adamts20^sp2 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: The splotch2 mutation corresponds to a T to A transversion in the acceptor splice site of intron 16 (TTTTTCAG -> ATTTTCAG) of the Adamts20 gene on Chromosome 15 (position 65398 in the Genbank genomic region NC_000081). Mutation of the normal acceptor splice site for intron 16 may result in deletion of exon 17 if the next acceptor site is used, partial deletion if the cell uses an alternative downstream site or insertion of non-coding sequence if the cell uses an upstream alternative splice site. Deletion of exon 17 would result in loss of the reading frame and a truncation of the protein but this possibility has not been confirmed at the cDNA level.
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Adamts20 Mutation: 93 strains or lines available

References

• Original: J:132965 Beutler B, Splotch2 is an allele of Adamts20 (a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 20) and is a white-spotting mutant. MGI Direct Data Submission. 2008
• All: 1 reference(s)