B6;129P2-Gjb2^tm2.1Kwi/Cnrm

Status	Available to order
EMMA ID	EM:05215
Citation information	RRID:IMSR_EM:05215 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	B6;129P2-Gjb2^tm2.1Kwi/Cnrm
Alternative name	Cx26floxS17F
Strain type	Targeted Mutant Strains : Conditional mutation
Allele/Transgene symbol	Gjb2^tm2.1Kwi
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	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
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 (allele matching)

no phenotypic analysis / MGI

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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

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Practical information

Example health report
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Material Transfer Agreement (MTA)
For this strain no provider MTA is needed. Distribution is based on the EMMA conditions only.

EMMA conditions
Legally binding conditions for the transfer

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B6;129P2-Gjb2tm2.1Kwi/Cnrm