C57BL/6N-A^tm1Brd Trappc9^{tm1a(EUCOMM)Wtsi}/WtsiPh

Status	Under development - register interest
EMMA ID	EM:14470
International strain name	C57BL/6N-A^tm1Brd Trappc9^{tm1a(EUCOMM)Wtsi}/WtsiPh
Alternative name	EPD0596_4_E10
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Trappc9^{tm1a(EUCOMM)Wtsi}
Gene/Transgene symbol	Trappc9
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 EPD0596_4_E10. 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	Institute of Molecular Genetics, Prague, Czech Republic

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive non-syndromic intellectual disability / Orphanet_88616
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome / Orphanet_352530

IMPC phenotypes (allele matching)

increased monocyte cell number / IMPC
increased circulating insulin level / IMPC
abnormal vibrissa morphology / IMPC
increased mean platelet volume / IMPC
decreased lean body mass / IMPC
impaired glucose tolerance / IMPC
decreased mean corpuscular hemoglobin / IMPC
increased circulating sodium level / IMPC
decreased gamma-delta T cell number / IMPC
increased total body fat amount / IMPC
decreased grip strength / IMPC
increased red blood cell distribution width / IMPC
decreased bone mineral content / IMPC
decreased KLRG1-positive NK cell number / IMPC
increased Ly6C high monocyte number / IMPC
increased Ly6C low monocyte number / IMPC
increased fasting circulating glucose level / IMPC
increased CD11b-high dendritic cell number / IMPC
decreased CD11b-low dendritic cell number / IMPC

IMPC phenotypes (gene matching)

increased fasting circulating glucose level / IMPC
increased CD11b-high dendritic cell number / IMPC
decreased lean body mass / IMPC
decreased bone mineral content / IMPC
increased total body fat amount / IMPC
increased red blood cell distribution width / IMPC
decreased grip strength / IMPC
increased Ly6C high monocyte number / IMPC
abnormal vibrissa morphology / IMPC
decreased mean corpuscular hemoglobin / IMPC
decreased gamma-delta T cell number / IMPC
increased circulating sodium level / IMPC
increased monocyte cell number / IMPC
decreased KLRG1-positive NK cell number / IMPC
impaired glucose tolerance / IMPC
increased circulating insulin level / IMPC
increased mean platelet volume / IMPC
increased Ly6C low monocyte number / IMPC
decreased CD11b-low dendritic cell number / IMPC

MGI phenotypes (allele matching)

abnormal interatrial septum morphology / MGI
abnormal urethra morphology / MGI
abnormal lateral ventricle morphology / MGI
abnormal dorsal root ganglion morphology / MGI
internal hemorrhage / MGI
hemorrhage / MGI
thoracoschisis / MGI
abnormal cystic duct morphology / MGI
abnormal inferior vena cava valve morphology / MGI
abnormal pulmonary valve cusp morphology / MGI
dual inferior vena cava / MGI
absent segment of posterior cerebral artery / MGI
absent ductus venosus valve / MGI
abnormal infrahyoid muscle connection / MGI
multiple persisting craniopharyngeal ducts / MGI
blood in lymph vessels / MGI
heterochrony / MGI

MGI phenotypes (gene matching)

abnormal interatrial septum morphology / MGI
abnormal urethra morphology / MGI
abnormal lateral ventricle morphology / MGI
abnormal dorsal root ganglion morphology / MGI
internal hemorrhage / MGI
hemorrhage / MGI
thoracoschisis / MGI
abnormal cystic duct morphology / MGI
abnormal inferior vena cava valve morphology / MGI
abnormal pulmonary valve cusp morphology / MGI
dual inferior vena cava / MGI
absent segment of posterior cerebral artery / MGI
absent ductus venosus valve / MGI
abnormal infrahyoid muscle connection / MGI
multiple persisting craniopharyngeal ducts / MGI
blood in lymph vessels / MGI
heterochrony / MGI
hemangioma / 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

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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C57BL/6N-Atm1Brd Trappc9tm1a(EUCOMM)Wtsi/WtsiPh