Phenotypes Associated with This Genotype

Genotype
MGI:5922033

• Allelic Composition: Aipl1^tvrm127/Aipl1^tvrm127
• Genetic Background: C57BL/6J-Aipl1^tvrm127/Pjn

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

nervous system

retina photoreceptor degeneration ( J:243745 )

• 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

retina photoreceptor degeneration ( J:243745 )

• 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

abnormal visual evoked potential ( J:243745 )

absent visual evoked potential ( J:243745 )

• 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