Gjb2-Flox

Nomenclature

C57BL/6Smoc-Gjb2em1(flox)Smoc

Cat. NO.

NM-CKO-210062

Strain State

Sperm cryopreservation

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Gene Summary

Gene Symbol
Gjb2

Synonyms

Cx26， Cnx26， Gjb-2， AI325222

NCBI ID

14619

MGI ID

95720

Ensembl ID

ENSMUSG00000046352

Pubmed

Gjb2

Human Ortholog

GJB2

Model Description

These mice carry loxP sites flanking exon 2 of Gjb2 gene. When crossed with a Cre recombinase-expressing strain, this strain is useful in eliminating tissue-specific conditional expression of Gjb2 gene.

Disease Connection

Autosomal Recessive Nonsyndromic Deafness 1A

Phenotype(s)

MGI:5571190
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Sox10-cre mice.

Reference(s)

Takada Y, Beyer LA, Swiderski DL, O'Neal AL, Prieskorn DM, Shivatzki S, Avraham KB, Raphael Y, Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy. Hear Res. 2014 Mar;309:124-35

Autosomal Dominant Keratitis-Ichthyosis-Deafness Syndrome

Phenotype(s)

MGI:4867484
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Pgk1-cre mice.

Reference(s)

Schutz M, Auth T, Gehrt A, Bosen F, Korber I, Strenzke N, Moser T, Willecke K, 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

Autosomal Recessive Nonsyndromic Deafness 1A

Phenotype(s)

MGI:3588875
Note：The expected phenotype(s) may be observed in the above-mentioned mice that bred with Otog-cre mice.

Reference(s)

Cohen-Salmon M, Ott T, Michel V, Hardelin JP, Perfettini I, Eybalin M, Wu T, Marcus DC, Wangemann P, Willecke K, Petit C, Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol. 2002 Jul 9;12(13):1106-11

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