Gjb2^tm2.1Kwi
Targeted Allele Detail

Summary

• Symbol: Gjb2^tm2.1Kwi
• Name: gap junction protein, beta 2; targeted mutation 2.1, Klaus Willecke
• MGI ID: MGI:4867481
• Synonyms: Cx26^floxS17F
• Gene: Gjb2 Location: Chr14:57336059-57342159 bp, - strand Genetic Position: Chr14, 30.1 cM, cytoband D1-E1
• Alliance: Gjb2^tm2.1Kwi 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 (Conditional ready, No functional change)
• Mutation: Insertion
• Mutation details: A loxP site was inserted upstream of the coding region. An FRT-flanked neo cassette, a loxP site, a modified coding region containing nucleotide substitutions that result in the amino acid substitution of phenylalanine for serine at position 17 (S17F), and an IRES-EGFP were inserted downstream of the coding region. Flp-mediated recombination removed the neo cassette. Additional cre-mediated recombination is required to remove the endogenous coding region and allow for expression of the modified one. (J:166732)

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 Gjb2 Mutation: 20 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: 4 reference(s)