Phenotypes Associated with This Genotype

Genotype
MGI:5086280

• Allelic Composition: Lca5^{Gt(AG0283)Wtsi}/Lca5^{Gt(AG0283)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

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

Depigmented patches in Lca5^{Gt(AG0283)Wtsi}/Lca5^{Gt(AG0283)Wtsi} retina

vision/eye

abnormal retina pigmentation ( J:174018 )

• develop patches of depigmentation

abnormal retina photoreceptor layer morphology ( J:174018 )

• absent at 4 months of age

short photoreceptor inner segment ( J:174018 )

abnormal photoreceptor outer segment morphology ( J:174018 )

• initiation of outer segment development is delayed

short photoreceptor outer segment ( J:174018 )

disorganized photoreceptor outer segment ( J:174018 )

• discs in the OS are not oriented properly at P9?P13

abnormal eye physiology ( J:174018 )

• mislocalization of phototransduction proteins indicating a defect in intraflagellar transport

abnormal cone electrophysiology ( J:174018 )

• lack cone ERG responses to light from an early stage

abnormal rod electrophysiology ( J:174018 )

• lack rod ERG responses to light from an early stage

nervous system

nervous system phenotype ( J:174018 )

N • no defects in brain histology are detected

short photoreceptor inner segment ( J:174018 )

abnormal photoreceptor outer segment morphology ( J:174018 )

• initiation of outer segment development is delayed

short photoreceptor outer segment ( J:174018 )

disorganized photoreceptor outer segment ( J:174018 )

• discs in the OS are not oriented properly at P9?P13

pigmentation

abnormal retina pigmentation ( J:174018 )

• develop patches of depigmentation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 5		DOID:0110215	OMIM:604537	J:174018