C57BL/6N-A^tm1Brd Ehmt1^{tm1a(EUCOMM)Hmgu}/WtsiCnrm

Status	Available to order
EMMA ID	EM:10184
International strain name	C57BL/6N-A^tm1Brd Ehmt1^{tm1a(EUCOMM)Hmgu}/WtsiCnrm
Alternative name	HEPD0734_3_F01
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Ehmt1^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Ehmt1
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 HEPD0734_3_F01. 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	CNR, Consiglio Nazionale delle Ricerche, Monterotondo, Italy

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Kleefstra syndrome due to a point mutation / Orphanet_261652

IMPC phenotypes (gene matching)

preweaning lethality, complete penetrance / IMPC
increased thigmotaxis / IMPC
increased circulating LDL cholesterol level / IMPC
decreased locomotor activity / IMPC
increased grip strength / IMPC
decreased exploration in new environment / IMPC
decreased circulating creatinine level / IMPC
decreased blood urea nitrogen level / IMPC
abnormal behavior / IMPC
decreased circulating serum albumin level / IMPC
increased circulating cholesterol level / IMPC
increased mean platelet volume / IMPC
increased neutrophil cell number / IMPC
corneal opacity / IMPC
increased anxiety-related response / IMPC
increased lean body mass / IMPC

MGI phenotypes (gene matching)

abnormal nasal bone morphology / MGI
malocclusion / MGI
open neural tube / MGI
abnormal social investigation / MGI
increased anxiety-related response / MGI
decreased anxiety-related response / MGI
hypoactivity / MGI
decreased exploration in new environment / MGI
abnormal suckling behavior / MGI
abnormal object recognition memory / MGI
increased startle reflex / MGI
incomplete somite formation / MGI
postnatal growth retardation / MGI
impaired synaptic plasticity / MGI
abnormal associative learning / MGI
abnormal sensory capabilities/reflexes/nociception / MGI
no abnormal phenotype detected / MGI
abnormal social/conspecific interaction / MGI
decreased vertical activity / MGI
enhanced paired-pulse facilitation / MGI
delayed intramembranous bone ossification / MGI
abnormal response to novel object / MGI
abnormal metopic suture morphology / MGI
embryonic growth retardation / MGI
abnormal miniature excitatory postsynaptic currents / MGI
abnormal dendrite morphology / MGI
decreased survivor rate / MGI
decreased embryo weight / MGI
decreased fetal weight / MGI
impaired contextual conditioning behavior / MGI
impaired cued conditioning behavior / MGI
absent gastric milk in neonates / MGI
decreased birth body size / MGI
abnormal dendritic spine morphology / MGI
abnormal hippocampus pyramidal cell morphology / MGI
prenatal growth retardation / MGI
postnatal lethality, incomplete penetrance / MGI
embryonic lethality during organogenesis, complete penetrance / MGI
abnormal epigenetic regulation of gene expression / 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.

Frozen sperm. Delivered in 4 weeks (after paperwork in place). €1740^*
Rederivation of mice from frozen stock, delivery time available upon request . €3880^*
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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