C3H.C-Gars1^C201R/H

Status	Available to order
EMMA ID	EM:00087
International strain name	C3H.C-Gars1^C201R/H
Alternative name	GENA201, GENA202
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Gars1^C201R
Gene/Transgene symbol	Gars1

Information from provider

Provider	Pat Nolan
Provider affiliation	MRC Mammalian Genetics Unit
Genetic information	A T to C transition at base pair 456 results in an amino acid substitution of R for C at residue 201 (C201R).
Phenotypic information	Low limb tone, grip strength and poor wire manoeuvre.
References	A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191 An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.;Achilli Francesca, Bros-Facer Virginie, Williams Hazel P, Banks Gareth T, AlQatari Mona, Chia Ruth, Tucci Valter, Groves Michael, Nickols Carole D, Seburn Kevin L, Kendall Rachel, Cader Muhammed Z, Talbot Kevin, van Minnen Jan, Burgess Robert W, Brandner Sebastian, Martin Joanne E, Koltzenburg Martin, Greensmith Linda, Nolan Patrick M, Fisher Elizabeth M C, ;2009;Disease models & mechanisms;2;359-73; 19470612

Information from EMMA

Archiving centre	Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom

Disease and phenotype information

MGI allele-associated human disease models

Charcot-Marie-Tooth disease type 2D / DOID:0110164

IMPC phenotypes (gene matching)

abnormal seminal vesicle morphology / IMPC
embryonic lethality prior to organogenesis / IMPC
enlarged heart / IMPC
preweaning lethality, complete penetrance / IMPC
increased circulating triglyceride level / IMPC
enlarged urinary bladder / IMPC
abnormal stomach morphology / IMPC
decreased exploration in new environment / IMPC
small spleen / IMPC
abnormal skin morphology / IMPC
abnormal sternum morphology / IMPC
abnormal eye morphology / IMPC

MGI phenotypes (gene matching)

muscle weakness / MGI
demyelination / MGI
abnormal sensory neuron morphology / MGI
abnormal innervation pattern to muscle / MGI
abnormal neuromuscular synapse morphology / MGI
decreased body weight / MGI
decreased body size / MGI
hypoactivity / MGI
impaired coordination / MGI
abnormal gait / MGI
impaired limb coordination / MGI
postnatal growth retardation / MGI
prenatal lethality / MGI
premature death / MGI
no abnormal phenotype detected / MGI
muscular atrophy / MGI
abnormal sciatic nerve morphology / MGI
abnormal PNS synaptic transmission / MGI
abnormal tibialis anterior morphology / MGI
abnormal locomotor activation / MGI
nervous system phenotype / MGI
abnormal nervous system morphology / MGI
decreased muscle weight / MGI
abnormal nerve conduction / MGI
abnormal axon morphology / MGI
axon degeneration / MGI
decreased nerve conduction velocity / MGI
decreased skeletal muscle fiber number / MGI
decreased tibialis anterior weight / MGI
decreased grip strength / MGI
mortality/aging / MGI
postnatal lethality, complete penetrance / MGI
prenatal lethality, complete penetrance / MGI
prenatal lethality, incomplete penetrance / MGI

Literature references

A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse.;Nolan P M, Peters J, Strivens M, Rogers D, Hagan J, Spurr N, Gray I C, Vizor L, Brooker D, Whitehill E, Washbourne R, Hough T, Greenaway S, Hewitt M, Liu X, McCormack S, Pickford K, Selley R, Wells C, Tymowska-Lalanne Z, Roby P, Glenister P, Thornton C, Thaung C, Stevenson J A, Arkell R, Mburu P, Hardisty R, Kiernan A, Erven A, Steel K P, Voegeling S, Guenet J L, Nickols C, Sadri R, Nasse M, Isaacs A, Davies K, Browne M, Fisher E M, Martin J, Rastan S, Brown S D, Hunter J, ;2000;Nature genetics;25;440-3; 10932191
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.;Achilli Francesca, Bros-Facer Virginie, Williams Hazel P, Banks Gareth T, AlQatari Mona, Chia Ruth, Tucci Valter, Groves Michael, Nickols Carole D, Seburn Kevin L, Kendall Rachel, Cader Muhammed Z, Talbot Kevin, van Minnen Jan, Burgess Robert W, Brandner Sebastian, Martin Joanne E, Koltzenburg Martin, Greensmith Linda, Nolan Patrick M, Fisher Elizabeth M C, ;2009;Disease models & mechanisms;2;359-73; 19470612

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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 embryos. Delivered in 4 weeks (after paperwork in place). €1740^*
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).

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Practical information

Genotyping protocol

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C3H.C-Gars1C201R/H