Phenotypes Associated with This Genotype

Genotype
MGI:5557979

• Allelic Composition: Cep290^rd16/Cep290^rd16
• Genetic Background: involves: BXD24/TyJ * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina photoreceptor morphology ( J:169232 )

• ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately

photoreceptor inner segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

abnormal photoreceptor outer segment morphology ( J:169232 )

• stacks of outer segments are formed but do not organize into the extended vertical arrays

short photoreceptor outer segment ( J:169232 )

• 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

photoreceptor outer segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

retina photoreceptor degeneration ( J:169232 )

retina cone cell degeneration ( J:169232 )

• mice only show a single row of cone nuclei remaining after rod degeneration

retina rod cell degeneration ( J:169232 )

• complete degeneration by P28

thin retina outer nuclear layer ( J:169232 )

• pyknotic photoreceptor nuclei start to appear at P14 in the outer nuclear layer which starts to thin

abnormal cone electrophysiology ( J:169232 )

• 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

abnormal retina photoreceptor morphology ( J:169232 )

• ciliary axoneme is reduced or absent, however the connecting cilium is intact and positioned appropriately

photoreceptor inner segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

abnormal photoreceptor outer segment morphology ( J:169232 )

• stacks of outer segments are formed but do not organize into the extended vertical arrays

short photoreceptor outer segment ( J:169232 )

• 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

photoreceptor outer segment degeneration ( J:169232 )

• almost complete loss of inner segment and outer segment at P18, with only a single row of outer nuclear layer nuclei remaining at P28

retina photoreceptor degeneration ( J:169232 )

retina cone cell degeneration ( J:169232 )

• mice only show a single row of cone nuclei remaining after rod degeneration

retina rod cell degeneration ( J:169232 )

• complete degeneration by P28

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 10		DOID:0110291	OMIM:611755	J:169232