Phenotypes Associated with This Genotype

Genotype
MGI:5924963

• Allelic Composition: Alms1^tvrm102/Alms1^tvrm102
• Genetic Background: C57BL/6J-Alms1^tvrm102/Pjn

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

pigmentation

retina pigment epithelium atrophy ( J:243745 )

• by 5 months of age fundus images have a grainy appearance with atypical retinal pigment epithelium and by 15 months of age small bright spots are found

growth/size/body

obese ( J:243745 )

• between 6 and 12 weeks of age males begin to show increased weight relative to controls and they average over 40g at 20 weeks of age

nervous system

retina photoreceptor degeneration ( J:243745 )

vision/eye

retina photoreceptor degeneration ( J:243745 )

retina pigment epithelium atrophy ( J:243745 )

• by 5 months of age fundus images have a grainy appearance with atypical retinal pigment epithelium and by 15 months of age small bright spots are found

retina outer nuclear layer degeneration ( J:243745 )

• marginal thinning of the outer nuclear layer at 5 months of age and by 18 months only approximately 25% of photoreceptors remain

increased susceptibility to age-related retinal degeneration ( J:243745 )

• slow, progressive retinal degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Alstrom syndrome		DOID:0050473	OMIM:203800	J:243745