C57BL/6N-Uchl1^{tm1a(EUCOMM)Hmgu}/H

Status	Available to order
EMMA ID	EM:09187
International strain name	C57BL/6N-Uchl1^{tm1a(EUCOMM)Hmgu}/H
Alternative name	HEPD0603_7_H04
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Uchl1^{tm1a(EUCOMM)Hmgu}
Gene/Transgene symbol	Uchl1
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 EUCOMM ES clone HEPD0603_7_H04. 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

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome / Orphanet_352654

IMPC phenotypes (gene matching)

increased blood urea nitrogen level / IMPC
increased startle reflex / IMPC
increased circulating alkaline phosphatase level / IMPC
abnormal spine curvature / IMPC
hyperactivity / IMPC
increased mean platelet volume / IMPC

MGI phenotypes (gene matching)

kyphosis / MGI
abnormal hindlimb morphology / MGI
tremors / MGI
paralysis / MGI
hindlimb paralysis / MGI
forelimb paralysis / MGI
abnormal medulla oblongata morphology / MGI
motor neuron degeneration / MGI
abnormal dorsal root ganglion morphology / MGI
abnormal neuromuscular synapse morphology / MGI
decreased body weight / MGI
weight loss / MGI
abnormal stationary movement / MGI
ataxia / MGI
impaired coordination / MGI
abnormal gait / MGI
limb grasping / MGI
increased thermal nociceptive threshold / MGI
premature death / MGI
neurodegeneration / MGI
abnormal PNS synaptic transmission / MGI
abnormal endplate potential / MGI
increased synaptic depression / MGI
decreased paired-pulse facilitation / MGI
increased coping response / MGI
axonal dystrophy / MGI
abnormal locomotor coordination / MGI
decreased neurotransmitter release / MGI
abnormal miniature endplate potential / MGI
abnormal synaptic plasticity / MGI
renal/urinary system phenotype / MGI
liver/biliary system phenotype / MGI
digestive/alimentary phenotype / MGI
cardiovascular system phenotype / MGI
respiratory system phenotype / MGI
hematopoietic system phenotype / MGI
axon degeneration / MGI
abnormal spinal cord dorsal column morphology / MGI
decreased grip strength / 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
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
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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