C57BL/6N-A^tm1Brd Kdm6a^{tm2c(EUCOMM)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:11128
International strain name	C57BL/6N-A^tm1Brd Kdm6a^{tm2c(EUCOMM)Wtsi}/WtsiH
Alternative name	EPD0506_3_A01
Strain type	Targeted Mutant Strains : Targeted Conditional
Allele/Transgene symbol	Kdm6a^{tm2c(EUCOMM)Wtsi}
Gene/Transgene symbol	Kdm6a
Disclaimer	Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA: We can not guarantee a null mutation for Knock-out first alleles (tm1a alleles, see http://www.mousephenotype.org/about-ikmc/targeting-strategies) as the critical exon has not been deleted. That the structure of the targeted mutation in the ES cells obtained from EUCOMM/KOMP to generate EUCOMM/KOMP mice is not verified by INFRAFRONTIER/EMMA. It is recommended that the recipient confirms the mutation structure. No check for determining the copy number of the targeting construct in ES cells obtained from EUCOMM/KOMP is done by INFRAFRONTIER/EMMA. The level of quality control before mice are released is to confirm the individual mouse genotype by short range PCR.

Information from provider

Provider	Wellcome Trust Sanger Institute
Provider affiliation	Wellcome Trust Sanger Institute
Genetic information	This line originates from EUCOMM ES clone EPD0506_3_A01, after breeding with a Flp recombinase deleter line to convert the original targeted allele tm2a (knock-out first allele) into a conditional allele tm2c. For further details on the construction of this clone see the page at the IMPC portal.
Phenotypic information	Potential phenotyping data in the IMPC portal
Breeding history	The Kdm6a gene is on the X-chromosome. Hemizygous males are fertile
References	None available

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C57BL/6NTacUSA
Breeding at archiving centre	This is a hemizygous mutation on a C57BL/6NTac background

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Kabuki syndrome / Orphanet_2322

MGI phenotypes (gene matching)

abnormal heart morphology / MGI
abnormal heart development / MGI
thin ventricular wall / MGI
cranioschisis / MGI
open neural tube / MGI
anemia / MGI
abnormal embryo development / MGI
decreased embryo size / MGI
pale yolk sac / MGI
pericardial edema / MGI
abnormal developmental patterning / MGI
no abnormal phenotype detected / MGI
small heart / MGI
abnormal notochord morphology / MGI
abnormal cardiovascular development / MGI
no phenotypic analysis / MGI
abnormal neural tube closure / MGI
delayed somite formation / MGI
embryonic growth retardation / MGI
caudal body truncation / MGI
failure of initiation of embryo turning / MGI
failure of heart looping / MGI
abnormal rostral-caudal axis patterning / MGI
muscle phenotype / MGI
increased trophoblast giant cell number / MGI
myocardial trabeculae hypoplasia / MGI
thin interventricular septum / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
abnormal muscle precursor cell morphology / MGI
impaired skeletal muscle regeneration / MGI

Information on how we integrate external resources can be found here

Availabilities

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

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
Reporterless null allele (tm1d allele), service fee and delivery time available upon request
Tissue - Types of tissue, service fee and delivery time available upon request

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

Genotyping protocol

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

Material Transfer Agreement (MTA)
MTA will be issued after an order has been submitted.

EMMA conditions
Legally binding conditions for the transfer

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