Gjb3^tm2.1Kwi
Targeted Allele Detail

Summary

• Symbol: Gjb3^tm2.1Kwi
• Name: gap junction protein, beta 3; targeted mutation 2.1, Klaus Willecke
• MGI ID: MGI:3711982
• Synonyms: Cx31^F137L
• Gene: Gjb3 Location: Chr4:127219028-127224633 bp, - strand Genetic Position: Chr4, 61.48 cM
• Alliance: Gjb3^tm2.1Kwi page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:121802
• Parent Cell Line: HM-1 (ES Cell)
• Strain of Origin: 129P2/OlaHsd-Hprt1^b-m3

Mutation description

• Allele Type: Targeted (Humanized sequence, Modified isoform(s), Null/knockout)
• Mutations: Insertion, Single point mutation
• Mutation details: A T to C transition resulted in the insertion of the human F137L mutation in the third transmembrane region. A floxed sequence, including an frt-flanked neo, was located downstream of the F137L mutation and subsequently removed via transient cre expression. (J:121802)

Disease models

Expression

In Structures Affected by this Mutation:

1 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 Gjb3 Mutation: 97 strains or lines available

References

• Original: J:121802 Schnichels M, et al., The Connexin31 F137L mutant mouse as a model for the human skin disease Erythrokeratodermia variabilis (EKV). Hum Mol Genet. 2007 May 15;16(10):1216-24
• All: 1 reference(s)