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Phenotypes Associated with This Genotype
Genotype
MGI:6157954
Allelic
Composition
2610301B20Rikem3Jyang/2610301B20Rikem3Jyang
Genetic
Background
involves: C57BL/6 * CBA
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Mouse lines carrying:
2610301B20Rikem3Jyang mutation (0 available); any 2610301B20Rik mutation (3 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
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 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
11/26/2019
MGI 6.14
The Jackson Laboratory