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	None available

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)

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

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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