B6N.Cg-Gjb2^tm1Ugds Tg(Sox10-cre)1Wdr/Cnrm

Status	Available to order
EMMA ID	EM:11478
International strain name	B6N.Cg-Gjb2^tm1Ugds Tg(Sox10-cre)1Wdr/Cnrm
Alternative name	Cx26-Sox10Cre
Strain type	Targeted Mutant Strains : Conditional mutation
Allele/Transgene symbol	Gjb2^tm1Ugds, Tg(Sox10-cre)1Wdr
Gene/Transgene symbol	Gjb2, Tg(Sox10-cre)1Wdr

Information from provider

Provider	Fabio Mammano
Provider affiliation	IBCN, CNR
Genetic information	These mice, with targeted ablation of connexin 26 (Gjb2) in non-sensory cells of the inner ear were generated by crossing Cx26 loxP/loxP mice (MGI:2183509) with Sox10-Cre mice (MGI:3586900).
Phenotypic information	Homozygous: These mice present with elevated hearing thresholds (>90 dB SPL) at all tested frequencies. Heterozygous: No obvious developmental or behavioural abnormality. Normal hearing at weaning.
Breeding history	N=5 backcrosses to C57BL/6N.
References	ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear.;Anselmi Fabio, Hernandez Victor H, Crispino Giulia, Seydel Anke, Ortolano Saida, Roper Stephen D, Kessaris Nicoletta, Richardson William, Rickheit Gesa, Filippov Mikhail A, Monyer Hannah, Mammano Fabio, ;2008;Proceedings of the National Academy of Sciences of the United States of America;105;18770-5; 19047635 BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.;Crispino Giulia, Di Pasquale Giovanni, Scimemi Pietro, Rodriguez Laura, Galindo Ramirez Fabian, De Siati Romolo Daniele, Santarelli Rosa Maria, Arslan Edoardo, Bortolozzi Mario, Chiorini John A, Mammano Fabio, ;2011;PloS one;6;e23279; 21876744 Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea.;Johnson Stuart L, Ceriani Federico, Houston Oliver, Polishchuk Roman, Polishchuk Elena, Crispino Giulia, Zorzi Veronica, Mammano Fabio, Marcotti Walter, ;2017;The Journal of neuroscience : the official journal of the Society for Neuroscience;37;258-268; 28077706 Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.;Mammano Fabio, ;2019;Cold Spring Harbor perspectives in medicine;9;301-317; 30181354 Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.;Fetoni Anna Rita, Zorzi Veronica, Paciello Fabiola, Ziraldo Gaia, Peres Chiara, Raspa Marcello, Scavizzi Ferdinando, Salvatore Anna Maria, Crispino Giulia, Tognola Gabriella, Gentile Giulia, Spampinato Antonio Gianmaria, Cuccaro Denis, Guarnaccia Maria, Morello Giovanna, Van Camp Guy, Fransen Erik, Brumat Marco, Girotto Giorgia, Paludetti Gaetano, Gasparini Paolo, Cavallaro Sebastiano, Mammano Fabio, ;2018;Redox biology;19;117-126; 30199819 Ca²⁺ signaling, apoptosis and autophagy in the developing cochlea: Milestones to hearing acquisition.;Mammano Fabio, Bortolozzi Mario, ;2018;Cell calcium;70;; 28578918
Homozygous fertile	yes
Homozygous viable	yes
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

MGI allele-associated human disease models

autosomal recessive nonsyndromic deafness 1A / DOID:0110475

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

ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear.;Anselmi Fabio, Hernandez Victor H, Crispino Giulia, Seydel Anke, Ortolano Saida, Roper Stephen D, Kessaris Nicoletta, Richardson William, Rickheit Gesa, Filippov Mikhail A, Monyer Hannah, Mammano Fabio, ;2008;Proceedings of the National Academy of Sciences of the United States of America;105;18770-5; 19047635
BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice.;Crispino Giulia, Di Pasquale Giovanni, Scimemi Pietro, Rodriguez Laura, Galindo Ramirez Fabian, De Siati Romolo Daniele, Santarelli Rosa Maria, Arslan Edoardo, Bortolozzi Mario, Chiorini John A, Mammano Fabio, ;2011;PloS one;6;e23279; 21876744
Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea.;Johnson Stuart L, Ceriani Federico, Houston Oliver, Polishchuk Roman, Polishchuk Elena, Crispino Giulia, Zorzi Veronica, Mammano Fabio, Marcotti Walter, ;2017;The Journal of neuroscience : the official journal of the Society for Neuroscience;37;258-268; 28077706
Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.;Mammano Fabio, ;2019;Cold Spring Harbor perspectives in medicine;9;301-317; 30181354
Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway.;Fetoni Anna Rita, Zorzi Veronica, Paciello Fabiola, Ziraldo Gaia, Peres Chiara, Raspa Marcello, Scavizzi Ferdinando, Salvatore Anna Maria, Crispino Giulia, Tognola Gabriella, Gentile Giulia, Spampinato Antonio Gianmaria, Cuccaro Denis, Guarnaccia Maria, Morello Giovanna, Van Camp Guy, Fransen Erik, Brumat Marco, Girotto Giorgia, Paludetti Gaetano, Gasparini Paolo, Cavallaro Sebastiano, Mammano Fabio, ;2018;Redox biology;19;117-126; 30199819
Ca²⁺ signaling, apoptosis and autophagy in the developing cochlea: Milestones to hearing acquisition.;Mammano Fabio, Bortolozzi Mario, ;2018;Cell calcium;70;; 28578918

Information on how we integrate external resources can be found here

Order

Availabilities

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

Rederivation of mice from frozen stock, delivery time available upon request . €3880^*

Due to the dynamic nature of our processes strain availability may change at short notice. The local repository manager will advise you in these circumstances.

^* In addition users have to cover all the shipping costs (including the cost for returning dry-shippers, where applicable).

More details on pricing and delivery times

Practical information

Example health report
(Current health report will be provided later)

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6N.Cg-Gjb2tm1Ugds Tg(Sox10-cre)1Wdr/Cnrm