MGI phenotypes (allele matching)
- no phenotypic analysis / MGI
B6;129P2-Gjb2tm2.1Kwi/Cnrm
| Status | Available to order |
| EMMA ID | EM:05215 |
| International strain name | B6;129P2-Gjb2tm2.1Kwi/Cnrm |
| Alternative name | Cx26floxS17F |
| Strain type | Targeted Mutant Strains : Conditional mutation |
| Allele/Transgene symbol | Gjb2tm2.1Kwi |
| Gene/Transgene symbol | Gjb2 |
Information from provider
| Provider | Klaus WILLECKE |
| Provider affiliation | Molekulargenetik, Institut fuer Genetik, Universitaet Bonn |
| Genetic information | In this mouse line the Cx26 (Gjb2) coding DNA can be replaced by the Cx26S17F point mutated DNA followed by IRES-eGFP DNA, after cre-mediated recombination. The point mutated Cx26 DNA and the reporter gene are controlled by the endogenous Cx26 promoter. |
| Phenotypic information | The floxed allele codes for the expression of a non-mutated (wild-type) Cx26 protein. Thus, the homozygous floxed mice are viable and fertile. After cre recombinase-mediated deletion the homozygous mutants are not viable, whereas the surviving heterozygous mice (flox/+) show hyperplasia of tail and foot epidermis, wounded tails and annular tail restrictions, and are smaller than their wild-type littermates. Analyses of auditory brainstem responses (ABRs) indicate a ca. 35 dB increased hearing threshold in these mice, which is likely due to the reduction of the endocochlear potential by 20-40% (see Schütz et al., 2011). |
| Breeding history | Founder animals were backcrossed to C57BL/6 more than three times (more than 87.5%). |
| References |
|
| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | not known |
Information from EMMA
| Archiving centre | CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Porokeratotic eccrine ostial and dermal duct nevus / Orphanet_166286
- Palmoplantar keratoderma-deafness syndrome / Orphanet_2202
- Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome / Orphanet_2698
- Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
- Keratoderma hereditarium mutilans / Orphanet_494
- KID syndrome / Orphanet_477
- Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635
MGI phenotypes (gene matching)
- absent mandible / MGI
- decreased embryo size / MGI
- abnormal placenta development / MGI
- abnormal lymphatic vessel morphology / MGI
- no abnormal phenotype detected / MGI
- no phenotypic analysis / MGI
- lymphedema / MGI
- embryonic growth retardation / MGI
- decreased fetal size / MGI
- fetal growth retardation / MGI
- abnormal placental transport / MGI
- cardiovascular system phenotype / MGI
- abnormal mesenchyme morphology / MGI
- abnormal placental labyrinth vasculature morphology / MGI
- absent lymphatic vessels / MGI
- prenatal lethality, complete penetrance / MGI
- embryonic lethality during organogenesis, complete penetrance / MGI
- lethality throughout fetal growth and development, complete penetrance / MGI
- decreased placental labyrinth size / MGI
Literature references
- The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome.;Schütz Melanie, Auth Tanja, Gehrt Anna, Bosen Felicitas, Körber Inken, Strenzke Nicola, Moser Tobias, Willecke Klaus, ;2011;Human molecular genetics;20;28-39; 20926451
- Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F.;Bosen Felicitas, Celli Anna, Crumrine Debra, vom Dorp Katharina, Ebel Philipp, Jastrow Holger, Dörmann Peter, Winterhager Elke, Mauro Theodora, Willecke Klaus, ;2015;FEBS letters;589;1904-10; 26070424