B6.129-Sod1^{em1(SOD1)Emcf}/H

Status	Available to order
EMMA ID	EM:14880
Citation information	RRID:IMSR_EM:14880 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	B6.129-Sod1^{em1(SOD1)Emcf}/H
Alternative name	B6.129 Sod1em1(SOD1)Emcf/H
Strain type	Endonuclease-mediated
Allele/Transgene symbol	Sod1^{em1(SOD1)Emcf}
Gene/Transgene symbol	Sod1

Information from provider

Provider	Elizabeth Fisher
Provider affiliation	Department of Neuromuscular Diseases, UCL
Genetic information	B6.129-Sod1^{em1(SOD1)Emcf}/H knock-in mice carry the human version of the Cu,Zn-superoxide dismutase-1 gene (SOD1) gene with a missense alanine to valine mutation at codon 4 (A4V; allele designated Sod1^{em1(SOD1)Emcf}, MGI:6856511). The humanized SOD1-A4V gene replaces the mouse Sod1 gene at the endogenous locus. The humanized region begins at the first codon in exon 1 of the SOD1 gene, and continues through to the end of the human SOD1 5’ UTR. Exons 4, 5 and the 5’ UTR of the humanized SOD1 gene have been floxed and duplicated to allow conditional expression of a second copy of exons 4 and 5. These mice were generated using endonuclease mediated homologous recombination. Wild-type Cas9 protein purchased from Sigma (now Merck). The Cas9 and guides were delivered as RNPs so no Cas9 or guide sequences were integrated into the genome.
Phenotypic information	Homozygous: Homozygous B6.129-Sod1/H mice are viable and produced at normal mendelian ratios. Homozygous mice are currently undergoing longitudinal phenotyping. The oldest homozygous B6.129-Sod1/H mice are 12 months old at the time of writing and do not have an overt phenotype. Heterozygous: Heterozygous B6.129-Sod1/H mice are viable, fertile, and produced at normal mendelian ratios. Heterozygous mice are currently undergoing longitudinal phenotyping. The oldest heterozygous B6.129-Sod1/H mice are 12 months old at the time of writing and do not have an overt phenotype.
Breeding history	CRISPR-mediated targeting to introduce the SOD1-A4V mutation into the human SOD1 gene was performed in C57BL/6J-Sod1^{tm1.1(SOD1)Emcf}/H zygotes, which are already humanised at the SOD1 locus. Mosaic animals were crossed to C57BL/6J for one generation. Correctly targeted founder mice carrying the SOD1-A4V mutation (allele designated Sod1^{em1(SOD1)Emcf}) were crossed to C57BL/6J for one subsequent generation and mice carrying the SOD1-A4V mutation were selected for archiving. Overall this strain is N6 on C57BL/6J.
References	None available
Homozygous fertile	not known
Homozygous viable	yes
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

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Availabilities

Requesting frozen sperm or embryos is generally advisable wherever possible, in order to minimise the shipment of live mice.

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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B6.129-Sod1em1(SOD1)Emcf/H