Gjb2^tm2.2Kwi
Targeted Allele Detail

Summary

• Symbol: Gjb2^tm2.2Kwi
• Name: gap junction protein, beta 2; targeted mutation 2.2, Klaus Willecke
• MGI ID: MGI:4867482
• Synonyms: Cx26^S17F
• Gene: Gjb2 Location: Chr14:57336059-57342159 bp, - strand Genetic Position: Chr14, 30.1 cM, cytoband D1-E1
• Alliance: Gjb2^tm2.2Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:166732
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Null/knockout, Reporter)
• Mutations: Insertion, Intragenic deletion
• Mutation details: Cre-mediated recombination removed the endogenous coding region to allow for expression of the modified coding region containing the S17F substitution. (J:166732)

Disease models

Expression

In Structures Affected by this Mutation:

4 anatomical structure(s)

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 Gjb2 Mutation: 21 strains or lines available

References

• Original: J:166732 Schutz M, et al., The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Hum Mol Genet. 2011 Jan 1;20(1):28-39
• All: 3 reference(s)