C57BL/6-C9orf72^{em1.1(eGFP)Aisa}/H

Status	Available to order
EMMA ID	EM:15241
Citation information	RRID:IMSR_EM:15241 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information.
International strain name	C57BL/6-C9orf72^{em1.1(eGFP)Aisa}/H
Alternative name	C9orf72-tm1.1(eGFP)Aisa
Strain type	Endonuclease-mediated
Allele/Transgene symbol	C9orf72^{em1.1(eGFP)Aisa}
Gene/Transgene symbol	C9orf72

Information from provider

Provider	Adrian Isaacs
Provider affiliation	UCL
Genetic information	This strain carries a knock-in of eGFP directly downstream of the mouse C9orf72 ATG start codon. CRISPR Cas 9 was used to insert the eGFP sequence. immediately after, and in frame with, the endogenous mouse C9orf72 ATG start codon, in mouse embryonic stem cells. Validated embryonic stem cell clones were used to generate knock-in mice using standard procedures.
Phenotypic information	Homozygous: We have not generated homozygous mice. Heterozygous: No clinical signs via observation. No survival or body weight deficit up to 18 months of age.
Breeding history	ES cells used were C57BL/6N, followed by five generations of backcrossing to C57BL/6J.
References	PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.;Milioto Carmelo, Carcolé Mireia, Giblin Ashling, Coneys Rachel, Attrebi Olivia, Ahmed Mhoriam, Harris Samuel S, Lee Byung Il, Yang Mengke, Ellingford Robert A, Nirujogi Raja S, Biggs Daniel, Salomonsson Sally, Zanovello Matteo, de Oliveira Paula, Katona Eszter, Glaria Idoia, Mikheenko Alla, Geary Bethany, Udine Evan, Vaizoglu Deniz, Anoar Sharifah, Jotangiya Khrisha, Crowley Gerard, Smeeth Demelza M, Adams Mirjam L, Niccoli Teresa, Rademakers Rosa, van Blitterswijk Marka, Devoy Anny, Hong Soyon, Partridge Linda, Coyne Alyssa N, Fratta Pietro, Alessi Dario R, Davies Ben, Busche Marc Aurel, Greensmith Linda, Fisher Elizabeth M C, Isaacs Adrian M, ;2024;Nature neuroscience;27;643-655; 38424324
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

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

Amyotrophic lateral sclerosis / Orphanet_803
Frontotemporal dementia with motor neuron disease / Orphanet_275872
Huntington disease-like syndrome due to C9ORF72 expansions / Orphanet_401901

IMPC phenotypes (gene matching)

epithelial hyperplasia / IMPC
hyperplasia / IMPC
decreased total body fat amount / IMPC
enlarged spleen / IMPC
increased circulating alkaline phosphatase level / IMPC
chronic inflammation / IMPC
abnormal spleen morphology / IMPC
lymphoid hyperplasia / IMPC
abnormal vertebral arch morphology / IMPC
increased lean body mass / IMPC
increased spleen weight / IMPC
myeloid hyperplasia / IMPC
inflammation / IMPC
small testis / IMPC
enlarged lymph nodes / IMPC
acute inflammation / IMPC

Literature references

PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.;Milioto Carmelo, Carcolé Mireia, Giblin Ashling, Coneys Rachel, Attrebi Olivia, Ahmed Mhoriam, Harris Samuel S, Lee Byung Il, Yang Mengke, Ellingford Robert A, Nirujogi Raja S, Biggs Daniel, Salomonsson Sally, Zanovello Matteo, de Oliveira Paula, Katona Eszter, Glaria Idoia, Mikheenko Alla, Geary Bethany, Udine Evan, Vaizoglu Deniz, Anoar Sharifah, Jotangiya Khrisha, Crowley Gerard, Smeeth Demelza M, Adams Mirjam L, Niccoli Teresa, Rademakers Rosa, van Blitterswijk Marka, Devoy Anny, Hong Soyon, Partridge Linda, Coyne Alyssa N, Fratta Pietro, Alessi Dario R, Davies Ben, Busche Marc Aurel, Greensmith Linda, Fisher Elizabeth M C, Isaacs Adrian M, ;2024;Nature neuroscience;27;643-655; 38424324

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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^*
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), as well as a CRISPR surcharge.

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Practical information

Genotyping protocol

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C57BL/6-C9orf72em1.1(eGFP)Aisa/H