C57BL/6N-Aspa^{tm1b(EUCOMM)Wtsi}/Ieg

Status	Available to order
EMMA ID	EM:08755
International strain name	C57BL/6N-Aspa^{tm1b(EUCOMM)Wtsi}/Ieg
Alternative name	EPD0038_4_F09
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Aspa^{tm1b(EUCOMM)Wtsi}
Gene/Transgene symbol	Aspa
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	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Provider affiliation	Institute of Experimental Genetics, Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH)
Genetic information	This mouse line originates from EUCOMM ES clone EPD0038_4_F09. For further details on the construction of this clone see the page at the IMPC portal. The critical exon(s) were flanked by loxP sites, and subsequent cre expression excised this critical sequence resulting in a knockout reporter allele (Gt(ROSA)26Sor). Click here for more information on EUCOMM final vectors.
Phenotypic information	Potential phenotyping data in the IMPC portal
References	None available

Information from EMMA

Archiving centre	Helmholtz Zentrum Muenchen - German Research Center for Environmental Health (GmbH), Oberschleißheim, Germany
Animals used for archiving	heterozygous C57BL/6NTacUSA

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Severe Canavan disease / Orphanet_314911
Mild Canavan disease / Orphanet_314918

IMPC phenotypes (allele matching)

abnormal lens morphology / IMPC
abnormal cornea morphology / IMPC
corneal opacity / IMPC
hyperactivity / IMPC
decreased locomotor activity / IMPC
abnormal gait / IMPC
decreased exploration in new environment / IMPC
decreased startle reflex / IMPC
limb grasping / IMPC
increased mean corpuscular volume / IMPC
decreased vertical activity / IMPC
increased circulating alkaline phosphatase level / IMPC
decreased prepulse inhibition / IMPC
decreased grip strength / IMPC
decreased food intake / IMPC
increased fasting circulating glucose level / IMPC

IMPC phenotypes (gene matching)

decreased grip strength / IMPC
hyperactivity / IMPC
abnormal lens morphology / IMPC
decreased food intake / IMPC
decreased prepulse inhibition / IMPC
decreased locomotor activity / IMPC
increased circulating alkaline phosphatase level / IMPC
increased fasting circulating glucose level / IMPC
abnormal cornea morphology / IMPC
decreased vertical activity / IMPC
corneal opacity / IMPC
decreased exploration in new environment / IMPC
increased mean corpuscular volume / IMPC
abnormal gait / IMPC
limb grasping / IMPC
decreased startle reflex / IMPC

MGI phenotypes (gene matching)

decreased bone mineral density / MGI
megacephaly / MGI
tremors / MGI
muscle weakness / MGI
paralysis / MGI
abnormal diencephalon morphology / MGI
abnormal myelination / MGI
demyelination / MGI
abnormal oligodendrocyte morphology / MGI
decreased body length / MGI
decreased body weight / MGI
decreased body size / MGI
decreased anxiety-related response / MGI
ataxia / MGI
hyperactivity / MGI
hypoactivity / MGI
impaired coordination / MGI
abnormal gait / MGI
decreased startle reflex / MGI
abnormal pain threshold / MGI
seizures / MGI
premature death / MGI
abnormal brain morphology / MGI
no abnormal phenotype detected / MGI
gliosis / MGI
abnormal neurotransmitter level / MGI
spongiform encephalopathy / MGI
decreased vertical activity / MGI
astrocytosis / MGI
abnormal muscle tone / MGI
muscle hypertonia / MGI
lethargy / MGI
abnormal retinal ganglion layer morphology / MGI
abnormal brainstem morphology / MGI
abnormal enzyme/coenzyme level / MGI
behavior/neurological phenotype / MGI
axon degeneration / MGI
jerky movement / MGI
abnormal retinal nerve fiber layer morphology / MGI
brain vacuoles / MGI
abnormal brain white matter morphology / MGI
enlarged lateral ventricles / MGI
decreased total body fat amount / MGI
decreased bone mineral content / MGI
preweaning lethality, incomplete penetrance / MGI
abnormal auditory brainstem response waveform shape / MGI
increased or absent threshold for auditory brainstem response / MGI
abnormal sphingolipid level / MGI
decreased gamma-aminobutyric acid level / MGI
decreased glutamic acid level / MGI
increased aspartic acid level / MGI

Information on how we integrate external resources can be found here

Order

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^*

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-Aspatm1b(EUCOMM)Wtsi/Ieg