C3;CAnN-Pde6b^atrd1/H

Status	Available to order
EMMA ID	EM:01292
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

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C3;CAnN-Pde6batrd1/H