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Phenotypes Associated with This Genotype
Genotype
MGI:3039274
Allelic
Composition
Lrattm1Kpal/Lrattm1Kpal
Genetic
Background
involves: 129S6/SvEvTac
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lrattm1Kpal mutation (1 available); any Lrat mutation (6 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65tm1Tmr 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
• rod outer segments decrease in length
• cone outer segment disintegration is advanced in the P28 retina
• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42
• slow rod photoreceptor degeneration

nervous system
• after 8 weeks of dark-rearing, rod pigment isorhodopsin levels are decreased compared to homozygous Rpe65tm1Tmr 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
• rod outer segments decrease in length
• cone outer segment disintegration is advanced in the P28 retina
• rapid degeneration of cone photoreceptors, with M/L-opsin completely absent at P28 and S-opsin totally absent at P42
• 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


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
01/14/2020
MGI 6.14
The Jackson Laboratory