Phenotypes Associated with This Genotype

Genotype
MGI:5557980

• Allelic Composition: Cep290^rd16/Cep290^rd16; Nrl^tm1Asw/Nrl^tm1Asw
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * BXD24/TyJ * C57BL/6

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

vision/eye

retina photoreceptor degeneration ( J:169232 )

• 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

abnormal cone electrophysiology ( J:169232 )

• mice show sizeable S- and M-cone-driven ERG signals although the amplitudes are reduced compared to single Nrl homozygotes

nervous system

retina photoreceptor degeneration ( J:169232 )

• 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

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