B6Dnk;B6Brd;B6N-Tyr^c-Brd Mysm1^{tm1a(KOMP)Wtsi}/Wtsi

Status	Available to order
EMMA ID	EM:12102
International strain name	B6Dnk;B6Brd;B6N-Tyr^c-Brd Mysm1^{tm1a(KOMP)Wtsi}/Wtsi
Alternative name	EPD0019_1_A05
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Mysm1^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Mysm1
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 KOMP ES clone EPD0019_1_A05. 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	Wellcome Trust Sanger Institute, Hinxton, United Kingdom
Animals used for archiving	heterozygous C57BL/6Dnk;C57BL/6N
Stage of embryos	2-cell

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome / Orphanet_508542

IMPC phenotypes (allele matching)

abnormal vertebrae morphology / IMPC
abnormal rib morphology / IMPC
decreased circulating LDL cholesterol level / IMPC
decreased circulating HDL cholesterol level / IMPC
decreased hematocrit / IMPC
decreased leukocyte cell number / IMPC
increased granulocyte number / IMPC
abnormal coat/ hair morphology / IMPC
abnormal cranium morphology / IMPC
abnormal hindlimb morphology / IMPC
abnormal autopod morphology / IMPC
kinked tail / IMPC
short tail / IMPC
tremors / IMPC
abnormal body length / IMPC
decreased body length / IMPC
decreased body weight / IMPC
hyperactivity / IMPC
decreased locomotor activity / IMPC
abnormal gait / IMPC
abnormal response to new environment / IMPC
abnormal startle reflex / IMPC
trunk curl / IMPC
abnormal vocalization / IMPC
decreased caudal vertebrae number / IMPC
increased circulating phosphate level / IMPC
abnormal urination / IMPC
increased thermal nociceptive threshold / IMPC
abnormal coat/hair pigmentation / IMPC
abnormal tail morphology / IMPC
decreased IgE level / IMPC
increased mean corpuscular volume / IMPC
decreased circulating triglyceride level / IMPC
decreased hemoglobin content / IMPC
decreased erythrocyte cell number / IMPC
abnormal bone mineralization / IMPC
increased circulating alanine transaminase level / IMPC
increased lactate dehydrogenase level / IMPC
increased circulating alkaline phosphatase level / IMPC
increased circulating chloride level / IMPC
curly tail / IMPC
increased lean body mass / IMPC
decreased lean body mass / IMPC
abnormal pelvic girdle bone morphology / IMPC
abnormal vertebral arch morphology / IMPC
vertebral fusion / IMPC
decreased sacral vertebrae number / IMPC
abnormal behavior / IMPC
increased T cell number / IMPC
decreased B cell number / IMPC
abnormal retina pigmentation / IMPC
decreased circulating cholesterol level / IMPC
narrow eye opening / IMPC
decreased circulating serum albumin level / IMPC
thrombocytosis / IMPC
increased hemoglobin content / IMPC
decreased circulating total protein level / IMPC
increased mean corpuscular hemoglobin concentration / IMPC
increased CD4-positive, alpha-beta T cell number / IMPC
decreased mature B cell number / IMPC
increased IgG2b level / IMPC
increased IgG3 level / IMPC
decreased circulating amylase level / IMPC
increased total body fat amount / IMPC
increased bone mineral content / IMPC
preweaning lethality, incomplete penetrance / IMPC

IMPC phenotypes (gene matching)

increased total body fat amount / IMPC
abnormal rib morphology / IMPC
abnormal behavior / IMPC
decreased leukocyte cell number / IMPC
decreased locomotor activity / IMPC
increased lactate dehydrogenase level / IMPC
abnormal tail morphology / IMPC
increased circulating phosphate level / IMPC
decreased lean body mass / IMPC
increased circulating alkaline phosphatase level / IMPC
abnormal hindlimb morphology / IMPC
decreased circulating cholesterol level / IMPC
abnormal vertebrae morphology / IMPC
decreased body weight / IMPC
decreased circulating triglyceride level / IMPC
abnormal urination / IMPC
decreased erythrocyte cell number / IMPC
decreased hematocrit / IMPC
increased hemoglobin content / IMPC
abnormal gait / IMPC
abnormal coat/ hair morphology / IMPC
hyperactivity / IMPC
abnormal response to new environment / IMPC
increased mean corpuscular hemoglobin concentration / IMPC
decreased body length / IMPC
preweaning lethality, incomplete penetrance / IMPC
increased lean body mass / IMPC
abnormal body length / IMPC
decreased IgE level / IMPC
kinked tail / IMPC
decreased sacral vertebrae number / IMPC
increased mean corpuscular volume / IMPC
decreased B cell number / IMPC
decreased circulating serum albumin level / IMPC
abnormal pelvic girdle bone morphology / IMPC
increased circulating chloride level / IMPC
decreased caudal vertebrae number / IMPC
decreased hemoglobin content / IMPC
thrombocytosis / IMPC
abnormal cranium morphology / IMPC
abnormal startle reflex / IMPC
abnormal coat/hair pigmentation / IMPC
increased bone mineral content / IMPC
tremors / IMPC
increased CD4-positive, alpha-beta T cell number / IMPC
curly tail / IMPC
abnormal vertebral arch morphology / IMPC
short tail / IMPC
abnormal bone mineralization / IMPC
abnormal autopod morphology / IMPC
vertebral fusion / IMPC
decreased circulating LDL cholesterol level / IMPC
decreased circulating total protein level / IMPC
abnormal retina pigmentation / IMPC
increased T cell number / IMPC
increased granulocyte number / IMPC
increased circulating alanine transaminase level / IMPC
narrow eye opening / IMPC
decreased mature B cell number / IMPC
increased thermal nociceptive threshold / IMPC
decreased circulating amylase level / IMPC
decreased circulating HDL cholesterol level / IMPC
trunk curl / IMPC
increased IgG2b level / IMPC
increased IgG3 level / IMPC
abnormal vocalization / IMPC

MGI phenotypes (allele matching)

belly spot / MGI
abnormal hair follicle morphology / MGI
distorted hair follicle pattern / MGI
abnormal hair cycle / MGI
kinked tail / MGI
abnormal epidermal layer morphology / MGI
abnormal tail morphology / MGI
decreased tail pigmentation / MGI

MGI phenotypes (gene matching)

belly spot / MGI
abnormal hair follicle morphology / MGI
distorted hair follicle pattern / MGI
abnormal hair cycle / MGI
kinked tail / MGI
abnormal epidermal layer morphology / MGI
abnormal tail morphology / MGI
decreased tail pigmentation / 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.

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

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

B6Dnk;B6Brd;B6N-Tyrc-Brd Mysm1tm1a(KOMP)Wtsi/Wtsi