B6Brd;B6N-Tyr^c-Brd Asxl1^{tm1a(EUCOMM)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:05867
International strain name	B6Brd;B6N-Tyr^c-Brd Asxl1^{tm1a(EUCOMM)Wtsi}/WtsiH
Alternative name	EPD0080_1_D11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Asxl1^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Asxl1
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 EPD0080_1_D11. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom
Animals used for archiving	heterozygous C57BL/6Brd-Tyr^c-Brd or C57BL/6NTac
Breeding at archiving centre	Received as frozen material. Due to the possible presence of C57BL/6Brd-Tyr^c-Brd, may produce albino pups if intercrossed.

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Systemic mastocytosis with associated hematologic neoplasm / Orphanet_98849
Aggressive systemic mastocytosis / Orphanet_98850
Bohring-Opitz syndrome / Orphanet_97297

IMPC phenotypes (allele matching)

decreased hematocrit / IMPC
abnormal cornea morphology / IMPC
corneal opacity / IMPC
hyperactivity / IMPC
decreased mean corpuscular volume / IMPC
decreased hemoglobin content / IMPC
decreased circulating iron level / IMPC
vertebral fusion / IMPC
decreased sacral vertebrae number / IMPC
increased lumbar vertebrae number / IMPC
decreased circulating glucose level / IMPC
decreased mean corpuscular hemoglobin / IMPC
impaired pupillary reflex / IMPC
increased blood uric acid level / IMPC
preweaning lethality, complete penetrance / IMPC
process of degenerative change / IMPC
cataract / IMPC

IMPC phenotypes (gene matching)

process of degenerative change / IMPC
decreased circulating glucose level / IMPC
hyperactivity / IMPC
decreased hemoglobin content / IMPC
impaired pupillary reflex / IMPC
decreased sacral vertebrae number / IMPC
decreased mean corpuscular hemoglobin / IMPC
increased lumbar vertebrae number / IMPC
decreased circulating iron level / IMPC
increased blood uric acid level / IMPC
vertebral fusion / IMPC
corneal opacity / IMPC
cataract / IMPC
decreased hematocrit / IMPC
preweaning lethality, complete penetrance / IMPC
decreased mean corpuscular volume / IMPC
abnormal cornea morphology / IMPC

MGI phenotypes (allele matching)

decreased leukocyte cell number / MGI
abnormal cornea morphology / MGI
corneal opacity / MGI
decreased hemoglobin content / MGI
vertebral fusion / MGI
decreased lumbar vertebrae number / MGI
decreased circulating glucose level / MGI
decreased mean corpuscular hemoglobin / MGI
increased blood uric acid level / MGI
increased sacral vertebrae number / MGI
opacity of vitreous body / MGI
eye opacity / MGI
lethality, complete penetrance / MGI

MGI phenotypes (gene matching)

cleft palate / MGI
increased leukocyte cell number / MGI
increased monocyte cell number / MGI
decreased leukocyte cell number / MGI
decreased neutrophil cell number / MGI
extramedullary hematopoiesis / MGI
increased bone marrow cell number / MGI
decreased bone marrow cell number / MGI
increased cell proliferation / MGI
abnormal craniofacial morphology / MGI
mandible hypoplasia / MGI
abnormal liver morphology / MGI
enlarged liver / MGI
abnormal spleen morphology / MGI
enlarged spleen / MGI
small spleen / MGI
spleen hyperplasia / MGI
abnormal thymus morphology / MGI
abnormal immune system cell morphology / MGI
decreased body weight / MGI
decreased body size / MGI
anophthalmia / MGI
microphthalmia / MGI
abnormal cornea morphology / MGI
corneal opacity / MGI
anemia / MGI
abnormal myelopoiesis / MGI
impaired hematopoiesis / MGI
increased malignant tumor incidence / MGI
increased leukemia incidence / MGI
increased sarcoma incidence / MGI
premature death / MGI
abnormal spleen white pulp morphology / MGI
abnormal bone marrow cell morphology/development / MGI
abnormal lymphopoiesis / MGI
abnormal megakaryocyte morphology / MGI
abnormal blood cell morphology/development / MGI
abnormal neutrophil physiology / MGI
opacity of vitreous body / MGI
abnormal immune system organ morphology / MGI
decreased hemoglobin content / MGI
vertebral transformation / MGI
abnormal hyoid bone morphology / MGI
thrombocytopenia / MGI
spleen atrophy / MGI
vertebral fusion / MGI
decreased lumbar vertebrae number / MGI
increased hematopoietic stem cell number / MGI
decreased hematopoietic stem cell number / MGI
decreased spleen weight / MGI
decreased lymphocyte cell number / MGI
decreased B cell number / MGI
decreased T cell number / MGI
abnormal neutrophil morphology / MGI
increased double-negative T cell number / MGI
polychromatophilia / MGI
abnormal skeleton morphology / MGI
decreased circulating glucose level / MGI
decreased mean corpuscular hemoglobin / MGI
increased apoptosis / MGI
abnormal common myeloid progenitor cell morphology / MGI
decreased CD4-positive, alpha beta T cell number / MGI
increased single-positive T cell number / MGI
decreased pre-B cell number / MGI
abnormal leukocyte morphology / MGI
decreased spleen red pulp amount / MGI
increased blood uric acid level / MGI
decreased erythroid progenitor cell number / MGI
eye opacity / MGI
increased sacral vertebrae number / MGI
increased number of Howell-Jolly bodies / MGI
myeloid hyperplasia / MGI
abnormal hematopoietic stem cell physiology / MGI
postnatal lethality, incomplete penetrance / MGI
neonatal lethality, incomplete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
lethality throughout fetal growth and development, incomplete penetrance / MGI
lethality, complete penetrance / 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 sperm. 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
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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B6Brd;B6N-Tyrc-Brd Asxl1tm1a(EUCOMM)Wtsi/WtsiH