- 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
C3;CAnN-Pde6brd1-2H/H
Status | Available to order |
EMMA ID | EM:01291 |
Citation information | RRID:IMSR_EM:01291 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-Pde6brd1-2H/H |
Alternative name | atrd5 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Pde6brd1-2H |
Gene/Transgene symbol | Pde6b |
Information from provider
Provider | Caroline Thaung |
Provider affiliation | MRC Mammalian Genetics Unit |
Phenotypic information | Slow onset retinal degeneration. This is a recessive mutation. Homozygotes have retinal degeneration. Compound heterozygotes with Pdebrd1 in background have slightly faster disease. |
References |
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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)
MGI phenotypes (allele matching)
- retinal degeneration / 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
- 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
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