Analysis Tools|
Allele Symbol Allele Name Allele ID |
Ankrd33tm1Tfur targeted mutation 1, Takahisa Furukawa MGI:8409342 |
||||||||||||
| Summary |
2 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• mice are viable, fertile, and show no gross morphological abnormalities
|
| N |
• ERG recordings under both scotopic and photopic conditions and the amplitudes and implicit times of both a-waves and b-waves show no differences from wild-type, and retinal structure and cell composition show no detectable abnormalities
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
• a subset of photoreceptors show disrupted or fragmented disc arrays, tortuous disc membranes, focal accumulations of vesicle-like or whorled membrane structures, and localized swelling, indicating a substantial failure of disc formation and/or maintenance
|
|
• the cone outer segments at 3 months of age are deformed, seen in both the dorsal and ventral regions of the retina
• ultrastructural defects in the outer segment structures, with a subset of photoreceptors exhibiting severe disorganization of the outer segment, characterized by disrupted or fragmented disc arrays, tortuous disc membranes, focal accumulations of vesicle-like or whorled membrane structures, and localized swelling, indicating a substantial failure of disc formation and/or maintenance
• however, inner retinal structure is well preserved
|
|
• seen in a subset of photoreceptors
|
|
• progressive photoreceptor degeneration
|
|
• cone degeneration, with loss of cones at 6 months of age
|
|
• average cone pedicle size is larger, with a marked increase at 3 months and at later stages
|
|
• retinas show prolonged photopic b-wave implicit time
|
|
• under dark-adapted conditions, retinas show progressively reduced scotopic a-wave amplitudes at 3 and 6 months of age
• under light-adapted conditions, both a- and b-waves of photopic ERGs are reduced in amplitude in 1 month old mice
|
|
• under dark-adapted conditions, retinas show progressively reduced scotopic b-wave amplitudes at 3 and 6 months of age
• under light-adapted conditions, both a- and b-waves of photopic ERGs are reduced in amplitude in 1 month old mice
|
|
• under light-adapted conditions, retinas exhibit significant reduction in photopic ERG responses at 1 months of age and loss of cone-driven light responses at 6 months
|
|
• under dark-adapted conditions, retinas exhibit dampened scotopic ERG responses
|
|
• a subset of photoreceptors show disrupted or fragmented disc arrays, tortuous disc membranes, focal accumulations of vesicle-like or whorled membrane structures, and localized swelling, indicating a substantial failure of disc formation and/or maintenance
|
|
• the cone outer segments at 3 months of age are deformed, seen in both the dorsal and ventral regions of the retina
• ultrastructural defects in the outer segment structures, with a subset of photoreceptors exhibiting severe disorganization of the outer segment, characterized by disrupted or fragmented disc arrays, tortuous disc membranes, focal accumulations of vesicle-like or whorled membrane structures, and localized swelling, indicating a substantial failure of disc formation and/or maintenance
• however, inner retinal structure is well preserved
|
|
• seen in a subset of photoreceptors
|
|
• progressive photoreceptor degeneration
|
|
• cone degeneration, with loss of cones at 6 months of age
|
|
• the overall distribution and organization of synapses formed between bipolar cells and both rods and cones appear normal, but PSD95 immunoreactivity is reduced and blurred at the photoreceptor axonal terminals
• membrane boundaries of cone terminals appear indistinct and diffuse
|
|
• multiple ribbon-containing cone pedicles exhibit compromised structural integrity
|
|
• lipidomics analysis shows elevated glycosphingolipid levels in 3-month-old retinas
|
|
• lipidomics analysis shows elevated ganglioside levels in 3-month-old retinas
• GT1b and GD3 gangliosides are increased in the outer segment layer at 1 month and 3 months of age, with a mild increase of GD3 ganglioside and a higher density accumulation of GT1b ganglioside forming larger puncta
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 09/08/2026 MGI 6.24 |
|
|
|
||
