C57BL/6N-Ap4e1^{tm1b(KOMP)Wtsi}/WtsiH

Status	Available to order
EMMA ID	EM:14331
International strain name	C57BL/6N-Ap4e1^{tm1b(KOMP)Wtsi}/WtsiH
Alternative name	EPD0025_5_A08
Strain type	Targeted Mutant Strains
Allele/Transgene symbol	Ap4e1^{tm1b(KOMP)Wtsi}
Gene/Transgene symbol	Ap4e1
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 KOMP ES clone EPD0025_5_A08. 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 using a cell permeable HTN-Cre as described in doi:10.1007/s11248-013-9764-x. Click here for more information on KOMP final vectors.
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

Severe intellectual disability and progressive spastic paraplegia / Orphanet_280763

IMPC phenotypes (allele matching)

abnormal vertebrae morphology / IMPC
abnormal spleen morphology / IMPC
enlarged spleen / IMPC
enlarged lymph nodes / IMPC
abnormal testis morphology / IMPC
small testis / IMPC
abnormal lens morphology / IMPC
decreased anxiety-related response / IMPC
hyperactivity / IMPC
increased exploration in new environment / IMPC
increased startle reflex / IMPC
limb grasping / IMPC
abnormal kidney morphology / IMPC
abnormal inspiratory capacity / IMPC
increased hematocrit / IMPC
decreased vertical activity / IMPC
increased heart weight / IMPC
increased circulating alkaline phosphatase level / IMPC
decreased circulating chloride level / IMPC
increased erythrocyte cell number / IMPC
decreased cardiac output / IMPC
abnormal retina inner nuclear layer morphology / IMPC
increased kidney weight / IMPC
decreased heart rate variability / IMPC
increased lean body mass / IMPC
abnormal sinus arrhythmia / IMPC
abnormal vertebral arch morphology / IMPC
abnormal behavior / IMPC
abnormal cholesterol homeostasis / IMPC
impaired glucose tolerance / IMPC
decreased heart rate / IMPC
increased circulating aspartate transaminase level / IMPC
cardiovascular system phenotype / IMPC
decreased circulating glucose level / IMPC
decreased mean corpuscular hemoglobin / IMPC
increased hemoglobin content / IMPC
increased cardiac muscle contractility / IMPC
decreased mean corpuscular hemoglobin concentration / IMPC
increased circulating amylase level / IMPC
increased prepulse inhibition / IMPC
impaired contextual conditioning behavior / IMPC
decreased total body fat amount / IMPC
increased grip strength / IMPC
decreased grip strength / IMPC
increased red blood cell distribution width / IMPC
increased circulating creatine kinase level / IMPC
increased bone mineral content / IMPC
decreased respiratory quotient / IMPC
increased lung compliance / IMPC
abnormal sleep behavior / IMPC
decreased total retina thickness / IMPC
increased fasting circulating glucose level / IMPC
abnormal freezing behavior / IMPC
decreased thigmotaxis / IMPC
hypoplasia / IMPC
hyperplasia / IMPC
fibro-osseous lesion / IMPC

IMPC phenotypes (gene matching)

abnormal testis morphology / IMPC
abnormal lens morphology / IMPC
decreased total retina thickness / IMPC
decreased mean corpuscular hemoglobin concentration / IMPC
abnormal spleen morphology / IMPC
increased lean body mass / IMPC
hyperactivity / IMPC
decreased heart rate / IMPC
increased startle reflex / IMPC
decreased grip strength / IMPC
abnormal vertebral arch morphology / IMPC
increased grip strength / IMPC
hyperplasia / IMPC
increased circulating sodium level / IMPC
decreased exploration in new environment / IMPC
decreased total body fat amount / IMPC
decreased circulating chloride level / IMPC
decreased vertical activity / IMPC
increased bone mineral content / IMPC
abnormal cholesterol homeostasis / IMPC
abnormal retina inner nuclear layer morphology / IMPC
decreased circulating serum albumin level / IMPC
decreased mean corpuscular volume / IMPC
decreased circulating glucose level / IMPC
increased prepulse inhibition / IMPC
fibro-osseous lesion / IMPC
increased lung compliance / IMPC
decreased respiratory quotient / IMPC
abnormal sleep behavior / IMPC
unresponsive to tactile stimuli / IMPC
increased cardiac muscle contractility / IMPC
abnormal behavior / IMPC
increased circulating creatine kinase level / IMPC
limb grasping / IMPC
increased circulating free fatty acids level / IMPC
preweaning lethality, incomplete penetrance / IMPC
decreased thigmotaxis / IMPC
hypoplasia / IMPC
abnormal coat appearance / IMPC
increased kidney weight / IMPC
decreased circulating total protein level / IMPC
increased erythrocyte cell number / IMPC
decreased mean corpuscular hemoglobin / IMPC
abnormal inspiratory capacity / IMPC
impaired glucose tolerance / IMPC
small testis / IMPC
increased circulating amylase level / IMPC
decreased anxiety-related response / IMPC
decreased circulating triglyceride level / IMPC
abnormal vertebrae morphology / IMPC
cardiovascular system phenotype / IMPC
increased circulating alkaline phosphatase level / IMPC
decreased cardiac output / IMPC
decreased heart rate variability / IMPC
increased bone mineral density / IMPC
abnormal freezing behavior / IMPC
abnormal sinus arrhythmia / IMPC
decreased circulating alanine transaminase level / IMPC
depletion / IMPC
enlarged lymph nodes / IMPC
increased hemoglobin content / IMPC
enlarged spleen / IMPC
process of degenerative change / IMPC
increased red blood cell distribution width / IMPC
decreased locomotor activity / IMPC
increased circulating aspartate transaminase level / IMPC
increased heart weight / IMPC
increased hematocrit / IMPC
impaired contextual conditioning behavior / IMPC
decreased circulating creatinine level / IMPC
decreased circulating free fatty acids level / IMPC
abnormal kidney morphology / IMPC
decreased hemoglobin content / IMPC
increased exploration in new environment / IMPC
increased fasting circulating glucose level / IMPC

MGI phenotypes (gene matching)

increased bone mineral density / MGI
abnormal femur morphology / MGI
decreased corpus callosum size / MGI
anemia / MGI
decreased vertical activity / MGI
decreased hemoglobin content / MGI
increased lean body mass / MGI
abnormal behavior / MGI
decreased mean corpuscular hemoglobin / MGI
enlarged lateral ventricles / 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^*
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

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

Other EMMA strains

Not found what you were looking for? Search here for other strains available from EMMA.

C57BL/6N-Ap4e1tm1b(KOMP)Wtsi/WtsiH