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Cdh23tm2.1Kjn
Targeted Allele Detail
Summary
Symbol: Cdh23tm2.1Kjn
Name: cadherin related 23 (otocadherin); targeted mutation 2.1, Kenneth R Johnson
MGI ID: MGI:5897995
Synonyms: c.735G, Cdh23c.735G
Gene: Cdh23  Location: Chr10:60138527-60532269 bp, - strand  Genetic Position: Chr10, 30.11 cM
Alliance: Cdh23tm2.1Kjn page
Mutation
origin
Germline Transmission:  Earliest citation of germline transmission: J:241137
Parent Cell Line:  JM8A3 (ES Cell)
Strain of Origin:  C57BL/6N-Atm1Brd
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 functional c.753G variant, was taken from a 129S1-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 via homologous recombination in C57BL/6N-derived ES cells, resulting in a A to G point mutation, which effectively reverts the ahl allele to wild-type, with a downstream loxP-flanked PGK-Neo cassette. Subsequent breeding to a cre deleter strain excised the selection cassette and generated this allele. (J:241137)
Inheritance:    Dominant
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:  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:  5 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
11/12/2024
MGI 6.24
The Jackson Laboratory