Cdh23^ahl+em3H
Endonuclease-mediated Allele Detail

Summary

• Symbol: Cdh23^ahl+em3H
• Name: cadherin related 23 (otocadherin); endonuclease-mediated revertant 3, Harwell
• MGI ID: MGI:5749861
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^ahl+em3H page
• IMPC: Cdh23 gene page

Mutation origin

• Strain of Origin: C57BL/6NTac
• Project Collection: IMPC

Mutation description

• Allele Type: Endonuclease-mediated (Not Specified)
• Mutation: Nucleotide substitutions
• Mutation details: The C57BL/6NTac strain naturally carries the age-related hearing loss allele that leads to in-frame exon skipping. Via Crispr technology, this allele has been repaired, i.e. a T-to-C substitution at position 60530947 (build GRCm38). This engineered point mutation mimics the C variant of SNP rs257098870 (G on negative gene strand) that is found in the 129S1/SvImJ, C3H/HeSnJ, I/LnJ, YBR/Ei, and MRL/MpJ strains. It restores the G-GT splice donor site that has changed to A-GT in C57BL/6 (and most other strains), where it causes skipping of in-frame exon 7. 29 bases upstream of this there is a silent AG-to-TC substitution in a serine codon. (J:82809, J:90559, J:236297)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 5 strains available Cell Lines: 0 lines available
• Carrying any Cdh23 Mutation: 280 strains or lines available

References

• Original: J:90559 The Mammalian Genetics Unit at Harwell, Information obtained from the Mammalian Genetics Unit, Medical Research Council (MRC), Harwell, UK. Unpublished. 2004-2013
• All: 5 reference(s)