- 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
STOCK Pde6batrd2/H
Status | Available to order |
EMMA ID | EM:00142 |
International strain name | STOCK Pde6batrd2/H |
Alternative name | Pde6b |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Pde6batrd2 |
Gene/Transgene symbol | Pde6b |
Information from provider
Provider | Caroline Thaung |
Provider affiliation | MRC Mammalian Genetics Unit |
Phenotypic information | Mice with this mutation have slow onset retinal degeneration. |
Breeding history | Initially crossed to C57BL/6J to recover the mutation and then crossed to C3H/HeH and intercrossed to remove the retinal degeneration gene carried by C3H/HeH. |
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 (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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