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Cdh23tm1.1Kjn
Targeted Allele Detail
Nomenclature
Symbol: Cdh23tm1.1Kjn
Name: cadherin 23 (otocadherin); targeted mutation 1.1, Kenneth R Johnson
MGI ID: MGI:5897899
Synonyms: c.753A, Cdh23c.753A
Gene: Cdh23  Location: Chr10:60138527-60532269 bp, - strand  Genetic Position: Chr10, 30.11 cM
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 detailsChr10: 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
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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:  196 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/30/2021
MGI 6.17
The Jackson Laboratory