Adamts10^em1Cbal
Endonuclease-mediated Allele Detail

Summary

• Symbol: Adamts10^em1Cbal
• Name: ADAM metallopeptidase with thrombospondin type 1 motif 10; endonuclease-mediated mutation 1, Clair Baldock
• MGI ID: MGI:6258768
• Synonyms: ADAMTS10^S236X
• Gene: Adamts10 Location: Chr17:33743178-33772756 bp, + strand Genetic Position: Chr17, 17.98 cM
• Alliance: Adamts10^em1Cbal page

Mutation origin

• Strain of Origin: (C57BL/6 x DBA/2)F1

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutations: Intragenic deletion, Nucleotide substitutions
• Mutation details: CRISPR-Cas9 technology introduced a S236X mutation, which is similar to the R237X mutation identified in Weill-Marchesani syndrome patients, and results in a premature stop codon. The mutation site is immediately after the propeptide at the start of the catalytic domain. RT-PCR confirmed a 106 bp deletion. (J:266801)

Disease models

Expression

In Structures Affected by this Mutation:

8 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 Adamts10 Mutation: 43 strains or lines available

References

• Original: J:266801 Mularczyk EJ, et al., ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome. Hum Mol Genet. 2018 Nov 1;27(21):3675-3687
• All: 1 reference(s)