C3.C(B6)-Pde6b⁺Wars2^mpc151H/H

Status	Available to order
EMMA ID	EM:15947
Citation information	RRID:IMSR_EM:15947 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.C(B6)-Pde6b⁺Wars2^mpc151H/H
Alternative name	C3.C(B6)-Pde6b<+>Wars2/H
Strain type	Induced Mutant Strains
Allele/Transgene symbol	Pde6b⁺, Wars2^mpc151H
Gene/Transgene symbol	Pde6b, Wars2

Information from provider

Provider	MRC, Medical Research Council
Provider affiliation	Mary Lyon Centre at MRC Harwell
Genetic information	Offspring of "sighted" C3H female (i.e. the congenic C3H stock carrying the BALB/c version of the Pde6b gene) mated to C57BL/6J male that received ENU. MUTA-G1-C3PDE/303 gave rise to line MUTA-PED-C3PDE-151 and subline MPC-151-WARS2-C3PDE. Strain carries V117L amino acid substitution in Wars2.
Phenotypic information	Mice display reduced fat mass, hypertrophic cardiomyopathy, sensorial hearing loss, and mitochondrial dysfunction.
Breeding history	Congenic on C35/HeH
References	Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.;Potter Paul K, Bowl Michael R, Jeyarajan Prashanthini, Wisby Laura, Blease Andrew, Goldsworthy Michelle E, Simon Michelle M, Greenaway Simon, Michel Vincent, Barnard Alun, Aguilar Carlos, Agnew Thomas, Banks Gareth, Blake Andrew, Chessum Lauren, Dorning Joanne, Falcone Sara, Goosey Laurence, Harris Shelley, Haynes Andy, Heise Ines, Hillier Rosie, Hough Tertius, Hoslin Angela, Hutchison Marie, King Ruairidh, Kumar Saumya, Lad Heena V, Law Gemma, MacLaren Robert E, Morse Susan, Nicol Thomas, Parker Andrew, Pickford Karen, Sethi Siddharth, Starbuck Becky, Stelma Femke, Cheeseman Michael, Cross Sally H, Foster Russell G, Jackson Ian J, Peirson Stuart N, Thakker Rajesh V, Vincent Tonia, Scudamore Cheryl, Wells Sara, El-Amraoui Aziz, Petit Christine, Acevedo-Arozena Abraham, Nolan Patrick M, Cox Roger, Mallon Anne-Marie, Brown Steve D M, ;2016;Nature communications;7;12444; 27534441 A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.;Agnew Thomas, Goldsworthy Michelle, Aguilar Carlos, Morgan Anna, Simon Michelle, Hilton Helen, Esapa Chris, Wu Yixing, Cater Heather, Bentley Liz, Scudamore Cheryl, Poulton Joanna, Morten Karl J, Thompson Kyle, He Langping, Brown Steve D M, Taylor Robert W, Bowl Michael R, Cox Roger D, ;2018;Cell reports;25;3315-3328.e6; 30566859
Homozygous fertile	not known
Homozygous viable	not known
Homozygous matings required	not known
Immunocompromised	not known

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

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
embryonic lethality prior to organogenesis / IMPC
decreased body weight / IMPC
abnormal heart morphology / IMPC
increased cellular hemoglobin content / IMPC
abnormal spinal cord morphology / 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
preweaning lethality, complete penetrance / IMPC
embryonic lethality prior to tooth bud stage / IMPC
enlarged heart / IMPC

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 gene function revealed by mouse mutagenesis screens for models of age-related disease.;Potter Paul K, Bowl Michael R, Jeyarajan Prashanthini, Wisby Laura, Blease Andrew, Goldsworthy Michelle E, Simon Michelle M, Greenaway Simon, Michel Vincent, Barnard Alun, Aguilar Carlos, Agnew Thomas, Banks Gareth, Blake Andrew, Chessum Lauren, Dorning Joanne, Falcone Sara, Goosey Laurence, Harris Shelley, Haynes Andy, Heise Ines, Hillier Rosie, Hough Tertius, Hoslin Angela, Hutchison Marie, King Ruairidh, Kumar Saumya, Lad Heena V, Law Gemma, MacLaren Robert E, Morse Susan, Nicol Thomas, Parker Andrew, Pickford Karen, Sethi Siddharth, Starbuck Becky, Stelma Femke, Cheeseman Michael, Cross Sally H, Foster Russell G, Jackson Ian J, Peirson Stuart N, Thakker Rajesh V, Vincent Tonia, Scudamore Cheryl, Wells Sara, El-Amraoui Aziz, Petit Christine, Acevedo-Arozena Abraham, Nolan Patrick M, Cox Roger, Mallon Anne-Marie, Brown Steve D M, ;2016;Nature communications;7;12444; 27534441
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways.;Agnew Thomas, Goldsworthy Michelle, Aguilar Carlos, Morgan Anna, Simon Michelle, Hilton Helen, Esapa Chris, Wu Yixing, Cater Heather, Bentley Liz, Scudamore Cheryl, Poulton Joanna, Morten Karl J, Thompson Kyle, He Langping, Brown Steve D M, Taylor Robert W, Bowl Michael R, Cox Roger D, ;2018;Cell reports;25;3315-3328.e6; 30566859

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C3.C(B6)-Pde6b+Wars2mpc151H/H