- 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
C3;CAnN-Pde6batrd1/H
Status | Available to order |
EMMA ID | EM:01292 |
International strain name | C3;CAnN-Pde6batrd1/H |
Alternative name | GENA245 |
Strain type | Induced Mutant Strains : Chemically-induced |
Allele/Transgene symbol | Pde6batrd1, |
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 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
MGI phenotypes (allele matching)
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
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