B6Brd;B6N-Tyr^c-Brd Nf1^{tm1a(KOMP)Wtsi}/WtsiPh

Status	Under development - register interest
EMMA ID	EM:15211
International strain name	B6Brd;B6N-Tyr^c-Brd Nf1^{tm1a(KOMP)Wtsi}/WtsiPh
Alternative name	EPD0033_1_F12
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Nf1^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Nf1
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 EPD0033_1_F12. 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	Institute of Molecular Genetics, Prague, Czech Republic

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Juvenile myelomonocytic leukemia / Orphanet_86834
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion / Orphanet_363700
Neurofibromatosis-Noonan syndrome / Orphanet_638
Hereditary pheochromocytoma-paraganglioma / Orphanet_29072
Pleomorphic rhabdomyosarcoma / Orphanet_293199
Alveolar rhabdomyosarcoma / Orphanet_99756
Embryonal rhabdomyosarcoma / Orphanet_99757

IMPC phenotypes (allele matching)

preweaning lethality, complete penetrance / IMPC
inflammation / IMPC

IMPC phenotypes (gene matching)

inflammation / IMPC
preweaning lethality, complete penetrance / IMPC

MGI phenotypes (allele matching)

decreased circulating alanine transaminase level / MGI
decreased lactate dehydrogenase level / MGI
decreased circulating aspartate transaminase level / MGI

MGI phenotypes (gene matching)

vasculature congestion / MGI
abnormal heart development / MGI
enlarged heart / MGI
abnormal heart shape / MGI
double outlet right ventricle / MGI
abnormal heart valve morphology / MGI
distended pericardium / MGI
abnormal atrioventricular cushion morphology / MGI
megacephaly / MGI
delayed kidney development / MGI
increased foot pad pigmentation / MGI
delayed hepatic development / MGI
liver hypoplasia / MGI
pale liver / MGI
delayed muscle development / MGI
abnormal tongue morphology / MGI
exencephaly / MGI
paravertebral ganglia hyperplasia / MGI
prevertebral ganglia hyperplasia / MGI
enlarged chest / MGI
microphthalmia / MGI
impaired coordination / MGI
abnormal spatial learning / MGI
focal hepatic necrosis / MGI
edema / MGI
abnormal lymphatic vessel morphology / MGI
hemorrhage / MGI
neoplasm / MGI
increased tumor incidence / MGI
increased leukemia incidence / MGI
increased lung adenocarcinoma incidence / MGI
increased neurofibrosarcoma incidence / MGI
increased adrenal gland tumor incidence / MGI
increased pheochromocytoma incidence / MGI
abnormal muscle morphology / MGI
no abnormal phenotype detected / MGI
disorganized myocardium / MGI
hydrops fetalis / MGI
abnormal mast cell physiology / MGI
persistent truncus arteriosis / MGI
abnormal vein morphology / MGI
heart hypoplasia / MGI
abnormal discrimination learning / MGI
decreased circulating alanine transaminase level / MGI
nervous system phenotype / MGI
pallor / MGI
increased atrioventricular cushion size / MGI
liver hemorrhage / MGI
decreased renal glomerulus number / MGI
decreased eye pigmentation / MGI
pericardial effusion / MGI
abnormal myocardium layer morphology / MGI
decreased lactate dehydrogenase level / MGI
abnormal enzyme/coenzyme activity / MGI
decreased circulating aspartate transaminase level / MGI
abnormal fetal atrioventricular canal morphology / MGI
increased mast cell degranulation / MGI
skeletal muscle hypoplasia / MGI
abnormal neural crest cell morphology / MGI
increased hepatoma incidence / MGI
increased neurofibroma incidence / MGI
pleural effusion / MGI
increased fibrosarcoma incidence / MGI
ventricular septal defect / MGI
abnormal mitral valve cusp morphology / MGI
postnatal lethality, complete penetrance / MGI
prenatal lethality, complete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
lethality throughout fetal growth and development, complete penetrance / MGI
increased tail pigmentation / MGI
increased ear pigmentation / MGI
abnormal metanephros morphology / MGI
increased lymphoma incidence / 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

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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

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B6Brd;B6N-Tyrc-Brd Nf1tm1a(KOMP)Wtsi/WtsiPh