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Targeted Allele Detail
Symbol: Gjb3tm2.1Kwi
Name: gap junction protein, beta 3; targeted mutation 2.1, Klaus Willecke
MGI ID: MGI:3711982
Synonyms: Cx31F137L
Gene: Gjb3  Location: Chr4:127325235-127330844 bp, - strand  Genetic Position: Chr4, 61.48 cM
Germline Transmission:  Earliest citation of germline transmission: J:121802
Parent Cell Line:  HM-1 (ES Cell)
Strain of Origin:  129P2/OlaHsd-Hprtb-m3
Allele Type:    Targeted
Mutation:    Insertion
Mutation detailsA 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)
View phenotypes for all genotypes (concatenated display).
Disease models
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 Gjb3 Mutation:  80 strains or lines available
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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 5.21
The Jackson Laboratory