Phenotypes Associated with This Genotype

Genotype
MGI:3039274

• Allelic Composition: Lrat^tm1Kpal/Lrat^tm1Kpal
• Genetic Background: involves: 129S6/SvEvTac

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

vision/eye

abnormal retina photoreceptor morphology ( J:136882 )

• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65^tm1Tmr mice

• M/L-opsin is mislocalized to the cone cell inner segment, perinuclear region, axon, and synaptic pedicle

• 11-cis retinal treatment corrects cone opsin mislocalization

short photoreceptor outer segment ( J:136882 )

• rod outer segments decrease in length

abnormal retina cone cell outer segment morphology ( J:136882 )

• cone outer segment disintegration is advanced in the P28 retina

retina photoreceptor degeneration ( J:136882 )

retina cone cell degeneration ( J:136882 )

• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42

retina rod cell degeneration ( J:136882 )

• slow rod photoreceptor degeneration

thin retina outer nuclear layer ( J:170648 )

• at P28-3

nervous system

abnormal retina photoreceptor morphology ( J:136882 )

• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65^tm1Tmr mice

• M/L-opsin is mislocalized to the cone cell inner segment, perinuclear region, axon, and synaptic pedicle

• 11-cis retinal treatment corrects cone opsin mislocalization

short photoreceptor outer segment ( J:136882 )

• rod outer segments decrease in length

abnormal retina cone cell outer segment morphology ( J:136882 )

• cone outer segment disintegration is advanced in the P28 retina

retina photoreceptor degeneration ( J:136882 )

retina cone cell degeneration ( J:136882 )

• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42

retina rod cell degeneration ( J:136882 )

• slow rod photoreceptor degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 14		DOID:0110188	OMIM:613341	J:136882