Analysis Tools
vision/eye
|
• loss of the photoreceptor inner segment/outer segment junction line at 2 months of age
|
|
• progressive photoreceptor cell loss
|
|
• at P10 the outer segment is generally swollen and also constricted at random spots
• at P30 the outer segment is about 30% wider than in controls, the density is about 20% less, and the diameter is more variable than in controls
• from P13 to P60 a massive disorganization of the membrane discs inside the outer segments is seen in an average of 50% of segments, with additional disc stacks parallel to the long axis and membranous whirls seen alongside the normal perpendicular discs
• outer segments without the abnormal vertical disc stacks often show a crooked shape with uneven diameters
|
|
• at P49 outer segment length is reduced by 29% compared to controls
• further reduction in length is seen by P208 when the outer segment is too short to be reliably measured
|
|
• slightly thinner at 2 months of age and significantly thinner at 6 months of age
• at P49 thickness at the midperipheral retina is reduced by 17% and further thinning (about 60%) is seen at P208
|
|
• at 6 months of age
|
|
• retinal degeneration is similar to human patients with mutations in the human homolog of this gene
|
|
• prolonged time of scotopic ERG a wave that is relatively stable between 12 - 26 weeks of age
|
|
• prolonged time for the photopic b wave that emerges at 26 weeks of age
|
|
• scotopic ERG a wave is reduced by about 60% at 5 weeks of age
• scotopic ERG a wave is reduced by about 75% at 12 weeks of age
• scotopic a wave reduction can be detected at 3 weeks of age
• reduction is progressive at up to 26 weeks of age
|
|
• scotopic and photopic ERG b wave are reduced by 45% and 35%, respectively, at 5 weeks of age
• scotopic and photopic ERG b wave are reduced by 55% and 50%, respectively, at 12 weeks of age
• photopic b wave reduction can be detected at 3 weeks of age
• reduction is progressive at up to 26 weeks of age
|
|
• reduced photopic ERG responses at 3 weeks of age
|
|
• reduced scotopic ERG responses at 3 weeks of age
|
limbs/digits/tail
| N |
• no defects in digit number
|
growth/size/body
| N |
• normal body weights in males and females at up to 6 months of age
• no defects in left-right asymmetry
|
renal/urinary system
| N |
• normal kidney morphology and weight
|
nervous system
|
• loss of the photoreceptor inner segment/outer segment junction line at 2 months of age
|
|
• progressive photoreceptor cell loss
|
|
• at P30 the outer segment is about 30% wider than in controls, the density is about 20% less, and the diameter is more variable than in controls
• at P10 the outer segment is generally swollen and also constricted at random spots
• from P13 to P60 a massive disorganization of the membrane discs inside the outer segments is seen in an average of 50% of segments, with additional disc stacks parallel to the long axis and membranous whirls seen alongside the normal perpendicular discs
• outer segments without the abnormal vertical disc stacks often show a crooked shape with uneven diameters
|
|
• at P49 outer segment length is reduced by 29% compared to controls
• further reduction in length is seen by P208 when the outer segment is too short to be reliably measured
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| cone-rod dystrophy 16 | DOID:0111022 |
OMIM:614500 |
J:259133 | |
| retinitis pigmentosa | DOID:10584 |
OMIM:PS268000 |
J:259133 | |
