Cdh23^tm1.1Kjn
Targeted Allele Detail

Summary

• Symbol: Cdh23^tm1.1Kjn
• Name: cadherin related 23 (otocadherin); targeted mutation 1.1, Kenneth R Johnson
• MGI ID: MGI:5897899
• Synonyms: c.753A, Cdh23^c.753A
• Gene: Cdh23 Location: Chr10:60138527-60532269 bp, - strand Genetic Position: Chr10, 30.11 cM
• Alliance: Cdh23^tm1.1Kjn page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:241137
• Parent Cell Line: CJ7 (ES Cell)
• Strain of Origin: 129S1/Sv-Oca2⁺ Tyr⁺ Kitl⁺

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: Chr10: 60,527,162 bp 60,536,889 bp (GRCm38), which contains the c.753A point mutation but is otherwise identical in sequence to the 129S1/SvImJ sequence, was taken from a C57BL/6J-derived BAC, a loxP-flanked PGK-Neo cassette was inserted 178 bp downstream of the c.753 nucleotide, homology arms were added to correctly target this sequence to replace the endogenous coding sequence, resulting in a G to A point substitution with a loxP-flanked PGK-Neo cassette. Subsequent breeding to a cre deleter strain excised the selection cassette and generated this allele. Cochlear transcripts show increased exon skipping as a result of this point mutation, and this is predicted to delete part of the 2nd and 3rd ectodomains. (J:241137)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Cdh23 Mutation: 281 strains or lines available

References

• Original: J:241137 Johnson KR, et al., Effects of Cdh23 single nucleotide substitutions on age-related hearing loss in C57BL/6 and 129S1/Sv mice and comparisons with congenic strains. Sci Rep. 2017 Mar 13;7:44450
• All: 1 reference(s)