C3;CAnN-Pde6b^atrd1/H

Status	Available to order
EMMA ID	EM:01292
Citation information	RRID:IMSR_EM:01292 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	C3;CAnN-Pde6b^atrd1/H
Alternative name	GENA245
Strain type	Induced Mutant Strains : Chemically-induced
Allele/Transgene symbol	Pde6b^atrd1
Gene/Transgene symbol	Pde6b

Information from provider

Provider	Caroline Thaung
Provider affiliation	MRC Mammalian Genetics Unit
Genetic information	Slow onset retinal degeneration.
Phenotypic information	This is a recessive mutation. Homozygotes have retinal degeneration. Compound heterozygotes with Pdeb^rd1 in background have slightly faster disease.
References	Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848

Information from EMMA

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

Disease and phenotype information

MGI allele-associated human disease models

Orphanet associated rare diseases, based on orthologous gene matching

Retinitis pigmentosa / Orphanet_791
Congenital stationary night blindness / Orphanet_215

IMPC phenotypes (gene matching)

abnormal whole-body plethysmography / IMPC
decreased circulating amylase level / IMPC
atrophy / IMPC
decreased defecation amount / IMPC
decreased body weight / IMPC
abnormal heart morphology / IMPC
increased cellular hemoglobin content / IMPC
decreased circulating triglyceride level / IMPC
decreased body temperature / IMPC
increased circulating potassium level / IMPC
increased mean corpuscular volume / IMPC
decreased locomotor activity / IMPC
increased blood uric acid level / IMPC
increased mean corpuscular hemoglobin concentration / IMPC
enlarged heart / IMPC

MGI phenotypes (allele matching)

retinal degeneration / MGI
blindness / MGI
decreased visual acuity / MGI
abnormal optic disc morphology / MGI
thin retinal outer nuclear layer / MGI
abnormal retina morphology / MGI
decreased retinal photoreceptor cell number / MGI
abnormal ocular fundus morphology / MGI
abnormal rod electrophysiology / MGI
abnormal cone electrophysiology / MGI
abnormal eye electrophysiology / MGI
retinal photoreceptor degeneration / MGI
abnormal retinal blood vessel morphology / MGI

MGI phenotypes (gene matching)

abnormal retinal rod cell morphology / MGI
abnormal retina morphology / MGI
retinal degeneration / MGI
decreased retinal photoreceptor cell number / MGI
blindness / MGI
abnormal retinal vasculature morphology / MGI
abnormal ocular fundus morphology / MGI
abnormal photoreceptor outer segment morphology / MGI
abnormal retinal outer nuclear layer morphology / MGI
abnormal rod electrophysiology / MGI
abnormal cone electrophysiology / MGI
vision/eye phenotype / MGI
abnormal Muller cell morphology / MGI
abnormal eye electrophysiology / MGI
decreased visual acuity / MGI
impaired pupillary reflex / MGI
abnormal optic disk morphology / MGI
retinal photoreceptor degeneration / MGI
retinal rod cell degeneration / MGI
absent retinal rod cells / MGI
thin retinal outer nuclear layer / MGI
retinal outer nuclear layer degeneration / MGI
absent photoreceptor outer segment / MGI
abnormal retinal blood vessel morphology / MGI
decreased total retina thickness / MGI

Literature references

Novel ENU-induced eye mutations in the mouse: models for human eye disease.;Thaung Caroline, West Katrine, Clark Brian J, McKie Lisa, Morgan Joanne E, Arnold Karen, Nolan Patrick M, Peters Jo, Hunter A Jackie, Brown Steve D M, Jackson Ian J, Cross Sally H, ;2002;Human molecular genetics;11;755-67; 11929848
Success of Gene Therapy in Late-Stage Treatment.;Koch Susanne F, Tsang Stephen H, ;2018;Advances in experimental medicine and biology;1074;101-107; 29721933
Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).;Davis Richard J, Tosi Joaquin, Janisch Kerstin M, Kasanuki J Mie, Wang Nan-Kai, Kong Jian, Tsui Ilene, Cilluffo Marianne, Woodruff Michael L, Fain Gordon L, Lin Chyuan-Sheng, Tsang Stephen H, ;2008;Investigative ophthalmology & visual science;49;5067-76; 18658088
Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration.;Zhang Lijuan, Du Jianhai, Justus Sally, Hsu Chun-Wei, Bonet-Ponce Luis, Wu Wen-Hsuan, Tsai Yi-Ting, Wu Wei-Pu, Jia Yading, Duong Jimmy K, Mahajan Vinit B, Lin Chyuan-Sheng, Wang Shuang, Hurley James B, Tsang Stephen H, ;2016;The Journal of clinical investigation;126;4659-4673; 27841758
Therapeutic margins in a novel preclinical model of retinitis pigmentosa.;Davis Richard J, Hsu Chun-Wei, Tsai Yi-Ting, Wert Katherine J, Sancho-Pelluz Javier, Lin Chyuan-Sheng, Tsang Stephen H, ;2013;The Journal of neuroscience : the official journal of the Society for Neuroscience;33;13475-83; 23946405
Halting progressive neurodegeneration in advanced retinitis pigmentosa.;Koch Susanne F, Tsai Yi-Ting, Duong Jimmy K, Wu Wen-Hsuan, Hsu Chun-Wei, Wu Wei-Pu, Bonet-Ponce Luis, Lin Chyuan-Sheng, Tsang Stephen H, ;2015;The Journal of clinical investigation;125;3704-13; 26301813
Reprogramming towards anabolism impedes degeneration in a preclinical model of retinitis pigmentosa.;Zhang Lijuan, Justus Sally, Xu Yu, Pluchenik Tamara, Hsu Chun-Wei, Yang Jin, Duong Jimmy K, Lin Chyuan-Sheng, Jia Yading, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen H, ;2016;Human molecular genetics;25;4244-4255; 27516389
Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa.;Koch Susanne F, Duong Jimmy K, Hsu Chun-Wei, Tsai Yi-Ting, Lin Chyuan-Sheng, Wahl-Schott Christian A, Tsang Stephen H, ;2017;Proceedings of the National Academy of Sciences of the United States of America;114;5259-5264; 28468800
Genetic Rescue Reverses Microglial Activation in Preclinical Models of Retinitis Pigmentosa.;Zhang Lijuan, Cui Xuan, Jauregui Ruben, Park Karen Sophia, Justus Sally, Tsai Yi-Ting, Duong Jimmy K, Hsu Chun-Wei, Wu Wen-Hsuan, Xu Christine L, Lin Chyuan-Sheng, Tsang Stephen H, ;2018;Molecular therapy : the journal of the American Society of Gene Therapy;26;1953-1964; 30001913
PKM2 ablation enhanced retinal function and survival in a preclinical model of retinitis pigmentosa.;Zhang Ethan, Ryu Joseph, Levi Sarah R, Oh Jin Kyun, Hsu Chun Wei, Cui Xuan, Lee Ting-Ting, Wang Nan-Kai, Lima de Carvalho Jose Ronaldo, Tsang Stephen H, ;2020;Mammalian genome : official journal of the International Mammalian Genome Society;31;77-85; 32342224
Targeting miR-181a/b in retinitis pigmentosa: implications for disease progression and therapy.;Costa Bruna Lopes da, Quinn Peter M J, Wu Wen-Hsuan, Liu Siyuan, Nolan Nicholas D, Demirkol Aykut, Tsai Yi-Ting, Caruso Salvatore Marco, Cabral Thiago, Wang Nan-Kai, Tsang Stephen H, ;2024;Cell & bioscience;14;64; 38773556

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 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).

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.

C3;CAnN-Pde6batrd1/H