About   Help   FAQ
Phenotypes Associated with This Genotype
Genotype
MGI:5922033
Allelic
Composition
Aipl1tvrm127/Aipl1tvrm127
Genetic
Background
C57BL/6J-Aipl1tvrm127/Pjn
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Aipl1tvrm127 mutation (1 available); any Aipl1 mutation (12 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• this early-onset photoreceptor degeneration is more severe than that of the tvrm119 allele, with normal histology at 8 days of age, but shortened photoreceptor outer segments and only 7 layers of photorecepto nuclei at 12 days of age, and only 1 layer of nuclei at 1 month of age
• at 12 days of age immunohistology for rhodopsin and cone arrestin shows mislocalized rod pigments and displaced cones

vision/eye
• this early-onset photoreceptor degeneration is more severe than that of the tvrm119 allele, with normal histology at 8 days of age, but shortened photoreceptor outer segments and only 7 layers of photorecepto nuclei at 12 days of age, and only 1 layer of nuclei at 1 month of age
• at 12 days of age immunohistology for rhodopsin and cone arrestin shows mislocalized rod pigments and displaced cones
• at 18 days of age dark-adapted ERG responses are absent, a phenotype more severe than that found in tvrm119 homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
Leber congenital amaurosis 4 DOID:0110332 OMIM:604393
J:243745


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)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
03/31/2020
MGI 6.15
The Jackson Laboratory