C57BL/6N-Fmr1^tm1.1Ics/Ics

Status	Available to order
EMMA ID	EM:16155
Citation information	RRID:IMSR_EM:16155 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/6N-Fmr1^tm1.1Ics/Ics
Alternative name	Fmr1tm1.1Ics/Ics
Strain type	Targeted Mutant Strains : Point mutation
Allele/Transgene symbol	Fmr1^tm1.1Ics
Gene/Transgene symbol	Fmr1

Information from provider

Provider	Stephane Martin
Provider affiliation	IPMC - CNRS UMR7275
Genetic information	The CGA arginine codon was changed into a CAA nucleotide triplet coding for a glutamine (R138Q; c.413G>A) in exon 5 (ENSMUSE00001301573, Fmr-201, GRXm39). In addition, a loxP flanked auto-excision neomycin cassette was inserted into intron 5. The floxed selection cassette was excised in the germline chimera mice. This is a missense mutation identified in Fragile X syndrome patients.
Phenotypic information	Homozygous: N/A Heterozygous: N/A
Breeding history	100% C57BL/6N (100% C57BL/6NCrl)
References	Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice.;Prieto Marta, Folci Alessandra, Poupon Gwénola, Schiavi Sara, Buzzelli Valeria, Pronot Marie, François Urielle, Pousinha Paula, Lattuada Norma, Abelanet Sophie, Castagnola Sara, Chafai Magda, Khayachi Anouar, Gwizdek Carole, Brau Frédéric, Deval Emmanuel, Francolini Maura, Bardoni Barbara, Humeau Yann, Trezza Viviana, Martin Stéphane, ;2021;Nature communications;12;1557; 33692361
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	no
Immunocompromised	no

Information from EMMA

Archiving centre	ICS, Institut Clinique de la Souris, Illkirch-Graffenstaden, France

Disease and phenotype information

Orphanet associated rare diseases, based on orthologous gene matching

Symptomatic form of fragile X syndrome in female carrier / Orphanet_449291
Fragile X syndrome / Orphanet_908
Fragile X-associated tremor/ataxia syndrome / Orphanet_93256

MGI phenotypes (gene matching)

abnormal dentate gyrus morphology / MGI
abnormal Purkinje cell morphology / MGI
abnormal ovary morphology / MGI
small ovary / MGI
increased body weight / MGI
hyperactivity / MGI
increased exploration in new environment / MGI
abnormal object recognition memory / MGI
increased startle reflex / MGI
abnormal long term depression / MGI
ovary cysts / MGI
increased vertical activity / MGI
decreased corpora lutea number / MGI
decreased aggression towards mice / MGI
ovary atrophy / MGI
abnormal neuronal precursor proliferation / MGI
abnormal female meiosis / MGI
behavior/neurological phenotype / MGI
abnormal female germ cell morphology / MGI
abnormal granulosa cell morphology / MGI
abnormal ovarian follicle number / MGI
abnormal secondary ovarian follicle morphology / MGI
abnormal cumulus oophorus / MGI
impaired conditioned place preference behavior / MGI
abnormal neuron differentiation / MGI

Literature references

Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice.;Prieto Marta, Folci Alessandra, Poupon Gwénola, Schiavi Sara, Buzzelli Valeria, Pronot Marie, François Urielle, Pousinha Paula, Lattuada Norma, Abelanet Sophie, Castagnola Sara, Chafai Magda, Khayachi Anouar, Gwizdek Carole, Brau Frédéric, Deval Emmanuel, Francolini Maura, Bardoni Barbara, Humeau Yann, Trezza Viviana, Martin Stéphane, ;2021;Nature communications;12;1557; 33692361

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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-Fmr1tm1.1Ics/Ics