Samd9l^em1Ndmo
Endonuclease-mediated Allele Detail

Summary

• Symbol: Samd9l^em1Ndmo
• Name: sterile alpha motif domain containing 9-like; endonuclease-mediated mutation 1, Akiko Nagamachi
• MGI ID: MGI:7525640
• Synonyms: Samd9L^D764N, Samd9l^em1Tina
• Gene: Samd9l Location: Chr6:3372257-3399458 bp, - strand Genetic Position: Chr6, 1.76 cM, cytoband A1-A2
• Alliance: Samd9l^em1Ndmo page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: Using CRISPR/Cas9 technology, a base substitution that causes an amino acid replacement, D764N, was introduced in the murine Smad9l gene. The mutation was previously described in a pedigree of MIRAGE syndrome (J:340003)

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 Samd9l Mutation: 95 strains or lines available

References

• Original: J:340003 Nagamachi A, et al., Multiorgan failure with abnormal receptor metabolism in mice mimicking Samd9/9L syndromes. J Clin Invest. 2021 Feb 15;131(4)
• All: 1 reference(s)