Phenotypes associated with this allele
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290rd16 mutation
(2 available);
any
Cep290 mutation
(126 available)
|
|
|
vision/eye
|
|
• degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age
|
|
|
• large pigment patches appear at 2 months of age
|
|
|
• reduction in thickness of outer nuclear layer in homozygotes is detected as early as 19 days of age and progresses as mice age
|
|
|
• detectable at 1 and 2 months of age
|
|
|
• retinae of homozygotes develops white retinal vessels at 1 month of age
|
|
|
• electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response
|
|
|
• electoretinograms indicate considerable deterioration of function in homozygotes compared to wild-type by 18 days of age; at 4 weeks of age, there is essentially no response
|
pigmentation
|
|
• large pigment patches appear at 2 months of age
|
nervous system
|
|
• degeneration of outer segments in homozygotes is detected as early as 19 days of age and progresses as mice age
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290rd16 mutation
(2 available);
any
Cep290 mutation
(126 available)
|
|
|
cellular
|
|
• primary dermal fibroblasts in culture are deficient in primary cilium formation, with about 50% fewer cells forming cilia than in wild-type cells
• cilia produced by dermal fibroblasts are more than 25% shorter than in wild-type cells
|
taste/olfaction
|
|
• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization
• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
|
|
|
• at all doses of odorant testing, mice show reduced electro-olfactogram responses at 1 month of age, indicating anosmia
|
craniofacial
|
|
• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization
• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
|
respiratory system
|
|
• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization
• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
|
growth/size/body
|
|
• some regions of the olfactory epithelium show signs of dendritic microtubule disorganization
• however, olfactory cilia and dendritic knobs are unaltered and the cilia layer is intact in the olfactory epithelium
|
|
|
| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cep290rd16 mutation
(2 available);
any
Cep290 mutation
(126 available)
|
|
|
vision/eye
|
|
• ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately
|
|
|
• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28
|
|
|
• stacks of outer segments are formed but do not organize into the extended vertical arrays
|
|
|
• early photoreceptor development occurs normally and all layers of the retina are present at P10 and P12, however, by P14, outer segment elongation is stalled and begins to regress
|
|
|
• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28
|
|
|
• mice only show a single row of cone nuclei remaining after rod degeneration
|
|
|
• complete degeneration by P28
|
|
|
• pyknotic photoreceptor nuclei start to appear at P14 in the outer nuclear layer which starts to thin
|
|
|
• mice show minimal S- and M-cone-mediated electroretinography responses that are near recording noise level and are smaller than wild-type responses
|
nervous system
|
|
• ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately
|
|
|
• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28
|
|
|
• stacks of outer segments are formed but do not organize into the extended vertical arrays
|
|
|
• early photoreceptor development occurs normally and all layers of the retina are present at P10 and P12, however, by P14, outer segment elongation is stalled and begins to regress
|
|
|
• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28
|
|
|
• mice only show a single row of cone nuclei remaining after rod degeneration
|
|
|
• complete degeneration by P28
|
vision/eye
|
|
• mice show degeneration of photoreceptors, with rapid loss of rods, however survival of cone photoreceptors is increased compared to single Cep290 mutants, showing 4-5 rows of outer nuclear layer nuclei at 3-4 months of age, indicating a much slower cone degeneration than in single mutants and an all-cone retina in mutants
|
|
|
• mice show sizeable S- and M-cone-driven ERG signals although the amplitudes are reduced compared to single Nrl homozygotes
|
nervous system
|
|
• mice show degeneration of photoreceptors, with rapid loss of rods, however survival of cone photoreceptors is increased compared to single Cep290 mutants, showing 4-5 rows of outer nuclear layer nuclei at 3-4 months of age, indicating a much slower cone degeneration than in single mutants and an all-cone retina in mutants
|
nervous system
|
|
• severe as early as P20 that is more severe than in Spata7tm1Mrd homozygotes
|
vision/eye
|
|
• severe as early as P20 that is more severe than in Spata7tm1Mrd homozygotes
|
Analysis Tools