C57BL/6NTac-Mboat7^{tm1a(KOMP)Wtsi}/H

Status	Available to order
EMMA ID	EM:08273
International strain name	C57BL/6NTac-Mboat7^{tm1a(KOMP)Wtsi}/H
Alternative name	EPD0094_4_C11
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Mboat7^{tm1a(KOMP)Wtsi}
Gene/Transgene symbol	Mboat7
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	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	This mouse line originates from KOMP ES clone EPD0094_4_C11. 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	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Autosomal recessive non-syndromic intellectual disability / Orphanet_88616

IMPC phenotypes (gene matching)

decreased lean body mass / IMPC
small seminal vesicle / IMPC
increased lymphocyte cell number / IMPC
preweaning lethality, incomplete penetrance / IMPC

MGI phenotypes (allele matching)

domed cranium / MGI
decreased body size / MGI
abnormal gait / MGI
abnormal eating behavior / MGI
abnormal pilomotor reflex / MGI
premature death / MGI
abnormal lipid homeostasis / MGI
lethargy / MGI
lethality, incomplete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI

MGI phenotypes (gene matching)

domed cranium / MGI
forebrain hypoplasia / MGI
abnormal cerebral cortex morphology / MGI
abnormal hippocampus morphology / MGI
dilated lateral ventricles / MGI
dilated third ventricle / MGI
decreased body size / MGI
abnormal gait / MGI
abnormal eating behavior / MGI
abnormal pilomotor reflex / MGI
hydroencephaly / MGI
premature death / MGI
abnormal lipid homeostasis / MGI
increased neuron apoptosis / MGI
nervous system phenotype / MGI
lethargy / MGI
increased fatty acid level / MGI
decreased fatty acid level / MGI
growth/size/body region phenotype / MGI
cellular phenotype / MGI
abnormal neuronal migration / MGI
small hippocampus / MGI
abnormal neurite morphology / MGI
abnormal neuron differentiation / MGI
lethality, incomplete penetrance / MGI
postnatal lethality, incomplete penetrance / MGI
perinatal lethality, incomplete penetrance / MGI
abnormal head shape / 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^*
LacZ tagged null allele (tm1b 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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