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Phenotypes Associated with This Genotype
Genotype
MGI:5086280
Allelic
Composition
Lca5Gt(AG0283)Wtsi/Lca5Gt(AG0283)Wtsi
Genetic
Background
involves: 129P2/OlaHsd * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lca5Gt(AG0283)Wtsi mutation (0 available); any Lca5 mutation (17 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• develop patches of depigmentation
• initiation of outer segment development is delayed
• discs in the OS are not oriented properly at P9?P13
• mislocalization of phototransduction proteins indicating a defect in intraflagellar transport
• lack cone ERG responses to light from an early stage
• lack rod ERG responses to light from an early stage

nervous system
N
• no defects in brain histology are detected
• initiation of outer segment development is delayed
• discs in the OS are not oriented properly at P9?P13

pigmentation
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory