B6Brd;B6N-Tyr^c-Brd Myh9^{tm1a(EUCOMM)Wtsi}/WtsiCnbc

Status	Available to order
EMMA ID	EM:05292
International strain name	B6Brd;B6N-Tyr^c-Brd Myh9^{tm1a(EUCOMM)Wtsi}/WtsiCnbc
Alternative name	EPD0070_5_C01
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Myh9^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Myh9
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 mouse line originates from EUCOMM ES clone EPD0070_5_C01. 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
References	Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131

Information from EMMA

Archiving centre	CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

MYH9-related disease / Orphanet_182050
Autosomal dominant non-syndromic sensorineural deafness type DFNA / Orphanet_90635

IMPC phenotypes (allele matching)

increased bone mineral density / IMPC
increased circulating aspartate transaminase level / IMPC
preweaning lethality, complete penetrance / IMPC

IMPC phenotypes (gene matching)

increased circulating aspartate transaminase level / IMPC
increased bone mineral density / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (gene matching)

abnormal thrombopoiesis / MGI
abnormal megakaryocyte differentiation / MGI
abnormal cell morphology / MGI
cataract / MGI
increased incidence of corneal inflammation / MGI
abnormal germ layer development / MGI
failure to gastrulate / MGI
decreased embryo size / MGI
abnormal placenta morphology / MGI
abnormal placenta labyrinth morphology / MGI
pale yolk sac / MGI
no abnormal phenotype detected / MGI
abnormal megakaryocyte morphology / MGI
abnormal blood coagulation / MGI
abnormal lens fiber morphology / MGI
albuminuria / MGI
no phenotypic analysis / MGI
abnormal cell migration / MGI
thrombocytopenia / MGI
abnormal vascular branching morphogenesis / MGI
abnormal vitelline vasculature morphology / MGI
abnormal cell adhesion / MGI
embryonic growth retardation / MGI
abnormal spongiotrophoblast layer morphology / MGI
abnormal placenta size / MGI
abnormal platelet morphology / MGI
increased susceptibility to age-related hearing loss / MGI
abnormal brain vasculature morphology / MGI
abnormal neutrophil morphology / MGI
hematuria / MGI
abnormal eye physiology / MGI
glomerulosclerosis / MGI
renal/urinary system phenotype / MGI
homeostasis/metabolism phenotype / MGI
hearing/vestibular/ear phenotype / MGI
embryo phenotype / MGI
vision/eye phenotype / MGI
hematopoietic system phenotype / MGI
corneal vascularization / MGI
increased bleeding time / MGI
impaired hearing / MGI
podocyte foot process effacement / MGI
increased megakaryocyte cell number / MGI
abnormal placental labyrinth vasculature morphology / MGI
prenatal lethality, complete penetrance / MGI
embryonic lethality between implantation and somite formation, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
preweaning lethality, complete penetrance / MGI
abnormal visceral endoderm morphology / MGI
thin placenta labyrinth / MGI
abnormal placenta intervillous maternal lacunae morphology / MGI
abnormal placenta fetal blood space morphology / MGI
increased or absent threshold for auditory brainstem response / MGI

Literature references

Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes.;White Jacqueline K, Gerdin Anna-Karin, Karp Natasha A, Ryder Ed, Buljan Marija, Bussell James N, Salisbury Jennifer, Clare Simon, Ingham Neil J, Podrini Christine, Houghton Richard, Estabel Jeanne, Bottomley Joanna R, Melvin David G, Sunter David, Adams Niels C, null null, Tannahill David, Logan Darren W, Macarthur Daniel G, Flint Jonathan, Mahajan Vinit B, Tsang Stephen H, Smyth Ian, Watt Fiona M, Skarnes William C, Dougan Gordon, Adams David J, Ramirez-Solis Ramiro, Bradley Allan, Steel Karen P, ;2013;Cell;154;452-64; 23870131

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.

Frozen embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
LacZ tagged null allele (tm1b allele), service fee and delivery time available upon request
Conditional ready allele (tm1c allele), service fee and delivery time available upon request
Reporterless null allele (tm1d allele), 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)
Distribution of this strain is subject to a provider MTA. Both signing of the MTA and submission of the online EMMA Mutant Request Form are required before material can be shipped.

EMMA conditions
Legally binding conditions for the transfer

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B6Brd;B6N-Tyrc-Brd Myh9tm1a(EUCOMM)Wtsi/WtsiCnbc