STOCK Gjb6^tm2.2Kwi/Cnrm

Status	Available to order
EMMA ID	EM:07626
International strain name	STOCK Gjb6^tm2.2Kwi/Cnrm
Alternative name	Cx30A88V
Strain type	Targeted Mutant Strains : Knock-in
Allele/Transgene symbol	Gjb6^tm2.2Kwi,
Gene/Transgene symbol	Gjb6

Information from provider

Provider	Klaus Willecke
Provider affiliation	Molecular genetics, LIMES Institute, University of Bonn
Genetic information	A point mutation in Gjb6 (Cx30) was introduced leading to an exchange of alanine to valine in position 88 of Cx30 (Cx30A88V). The ubiquitous expression of Cx30A88V is under the control of the endogenous Cx30 promoter. Additionally a IRES-NLS-LacZ reporter gene was introduced, monitoring the Cx30A88V expression.
Phenotypic information	Hyperproliferative sebaceous glands, mild hyperkeratosis, hearing impairments.
References	The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.;Bosen Felicitas, Schütz Melanie, Beinhauer Anna, Strenzke Nicola, Franz Thomas, Willecke Klaus, ;2014;FEBS letters;588;1795-801; 24685692
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

Clouston syndrome / DOID:14693

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive non-syndromic sensorineural deafness type DFNB / Orphanet_90636
Hidrotic ectodermal dysplasia / Orphanet_189
KID syndrome / Orphanet_477
Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635

MGI phenotypes (allele matching)

abnormal sebaceous gland morphology / MGI
enlarged sebaceous gland / MGI
abnormal epidermal layer morphology / MGI
hyperkeratosis / MGI
greasy coat / MGI
impaired hearing / MGI
increased or absent threshold for auditory brainstem response / MGI
decreased threshold for auditory brainstem response / MGI
increased sebocyte number / MGI

Literature references

The Clouston syndrome mutation connexin30 A88V leads to hyperproliferation of sebaceous glands and hearing impairments in mice.;Bosen Felicitas, Schütz Melanie, Beinhauer Anna, Strenzke Nicola, Franz Thomas, Willecke Klaus, ;2014;FEBS letters;588;1795-801; 24685692

Order

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^*

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

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STOCK Gjb6tm2.2Kwi/Cnrm