B6Brd;B6N-Tyr^c-Brd Mks1^{tm1a(EUCOMM)Wtsi}/WtsiOulu

Status	Available to order
EMMA ID	EM:05429
International strain name	B6Brd;B6N-Tyr^c-Brd Mks1^{tm1a(EUCOMM)Wtsi}/WtsiOulu
Alternative name	EPD0143_4_A03
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Mks1^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Mks1
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 EPD0143_4_A03. 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	University of Oulu, Oulu, Finland

Disease and phenotype information

MGI allele-associated human disease models

Meckel syndrome / DOID:0050778

Orphanet associated rare diseases, based on orthologous gene matching

Joubert syndrome with ocular defect / Orphanet_220493
Bardet-Biedl syndrome / Orphanet_110
Joubert syndrome / Orphanet_475
Meckel syndrome / Orphanet_564

IMPC phenotypes (allele matching)

abnormal nail morphology / IMPC
increased circulating creatine kinase level / IMPC
preweaning lethality, complete penetrance / IMPC
process of degenerative change / IMPC

IMPC phenotypes (gene matching)

abnormal nail morphology / IMPC
process of degenerative change / IMPC
increased circulating creatine kinase level / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (allele matching)

abnormal nail morphology / MGI
polydactyly / MGI
edema / MGI
abnormal eye morphology / MGI
abnormal fontanelle morphology / MGI
enlarged heart / MGI
increased cell proliferation / MGI
abnormal cell morphology / MGI
polyphalangy / MGI
dextrocardia / MGI
abnormal cerebral cortex morphology / MGI
cerebellum vermis hypoplasia / MGI
incomplete rostral neuropore closure / MGI
pulmonary hypoplasia / MGI
anophthalmia / MGI
microphthalmia / MGI
ocular hypertelorism / MGI
cyanosis / MGI
abnormal embryo turning / MGI
hydroencephaly / MGI
abnormal respiration / MGI
abnormal ear morphology / MGI
abnormal brain morphology / MGI
micrognathia / MGI
situs inversus / MGI
omphalocele / MGI
enlarged kidney / MGI
left pulmonary isomerism / MGI
increased neuron apoptosis / MGI
abnormal forebrain development / MGI
liver fibrosis / MGI
kidney cysts / MGI
abnormal long bone morphology / MGI
decreased length of long bones / MGI
holoprosencephaly / MGI
cleft upper lip / MGI
abnormal occipital bone morphology / MGI
abnormal cerebral aqueduct morphology / MGI
enlarged fourth ventricle / MGI
abnormal cerebral hemisphere morphology / MGI
abnormal neocortex morphology / MGI
preaxial polydactyly / MGI
abnormal ependyma motile cilium morphology / MGI
abnormal renal tubule epithelial cell primary cilium morphology / MGI
neonatal lethality, complete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
increased kidney cell proliferation / MGI
abnormal posterior cranial fossa morphology / MGI

MGI phenotypes (gene matching)

abnormal supraoccipital bone morphology / MGI
abnormal fontanelle morphology / MGI
abnormal frontal bone morphology / MGI
abnormal parietal bone morphology / MGI
cleft palate / MGI
rib bifurcation / MGI
rib fusion / MGI
abnormal sternum morphology / MGI
abnormal heart looping / MGI
enlarged heart / MGI
increased cell proliferation / MGI
abnormal cell morphology / MGI
polyphalangy / MGI
abnormal craniofacial morphology / MGI
domed cranium / MGI
pointed snout / MGI
mandible hypoplasia / MGI
kidney cortex cysts / MGI
polydactyly / MGI
abnormal autopod morphology / MGI
abnormal nail morphology / MGI
abnormal liver morphology / MGI
dextrocardia / MGI
absent spleen / MGI
abnormal cerebral cortex morphology / MGI
cerebellum vermis hypoplasia / MGI
exencephaly / MGI
abnormal floor plate morphology / MGI
incomplete rostral neuropore closure / MGI
pulmonary hypoplasia / MGI
anophthalmia / MGI
microphthalmia / MGI
ocular hypertelorism / MGI
cyanosis / MGI
abnormal embryo turning / MGI
edema / MGI
hydroencephaly / MGI
abnormal respiration / MGI
perinatal lethality / MGI
abnormal eye morphology / MGI
abnormal ear morphology / MGI
abnormal neural tube morphology / MGI
abnormal brain morphology / MGI
abnormal reproductive system morphology / MGI
small heart / MGI
abnormal cochlear hair cell morphology / MGI
micrognathia / MGI
situs inversus / MGI
abnormal renal glomerular capsule morphology / MGI
abnormal bile duct morphology / MGI
abnormal bile duct development / MGI
omphalocele / MGI
enlarged kidney / MGI
left pulmonary isomerism / MGI
increased neuron apoptosis / MGI
abnormal forebrain development / MGI
liver cysts / MGI
liver fibrosis / MGI
accessory spleen / MGI
abnormal ovary development / MGI
dilated renal glomerular capsule / MGI
kidney cysts / MGI
abnormal long bone morphology / MGI
abnormal urinary system development / MGI
duplex kidney / MGI
transposition of great arteries / MGI
abnormal motile primary cilium morphology / MGI
heterotaxia / MGI
right aortic arch / MGI
abnormal direction of heart looping / MGI
short sternum / MGI
abnormal cochlear outer hair cell morphology / MGI
presphenoid bone hypoplasia / MGI
abnormal orientation of outer hair cell stereociliary bundles / MGI
absent maxilla / MGI
abnormal thoracic cage morphology / MGI
decreased length of long bones / MGI
dilated kidney collecting duct / MGI
holoprosencephaly / MGI
cleft upper lip / MGI
abnormal occipital bone morphology / MGI
pericardial effusion / MGI
respiratory system phenotype / MGI
abnormal cerebral aqueduct morphology / MGI
enophthalmos / MGI
abnormal endochondral bone ossification / MGI
polycystic kidney / MGI
enlarged fourth ventricle / MGI
abnormal cerebral hemisphere morphology / MGI
abnormal neocortex morphology / MGI
preaxial polydactyly / MGI
complete atrioventricular septal defect / MGI
abnormal pollex morphology / MGI
abnormal stomach position or orientation / MGI
fused right lung lobes / MGI
abnormal ependyma motile cilium morphology / MGI
abnormal renal tubule epithelial cell primary cilium morphology / MGI
neonatal lethality, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
embryonic lethality during organogenesis, incomplete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
dilated nephron / MGI
abnormal loop of Henle ascending limb thick segment morphology / MGI
increased kidney cell proliferation / MGI
ectopic ovary / MGI
decreased embryonic cilium length / MGI
absent nodal flow / MGI
split sternal manubrium / MGI
decreased embryonic cilium number / MGI
decreased kidney epithelial cell primary cilium length / MGI
abnormal posterior cranial fossa morphology / 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 Mks1tm1a(EUCOMM)Wtsi/WtsiOulu