Phenotypes Associated with This Genotype

Genotype
MGI:5903076

• Allelic Composition: Nmnat1^tvrm113/Nmnat1^tvrm113
• Genetic Background: C57BL/6J-Nmnat1^tvrm113/Pjn

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

nervous system

retina photoreceptor degeneration ( J:234111 )

behavior/neurological

behavior/neurological phenotype ( J:234111 )

N • no abnormal activity level or motor impairment

cardiovascular system

abnormal retina vasculature morphology ( J:234111 )

• retinal vaculature becomes attenuated with age

pigmentation

retina pigment epithelium atrophy ( J:234111 )

vision/eye

abnormal retina morphology ( J:234111 )

• the retina has a grainy appearance with light spots

abnormal retina vasculature morphology ( J:234111 )

• retinal vaculature becomes attenuated with age

retina photoreceptor degeneration ( J:234111 )

retina pigment epithelium atrophy ( J:234111 )

decreased total retina thickness ( J:234111 )

• although normal thickness at 1 month of age, the retina is 47% thinner than normal at 12 months

retina degeneration ( J:234111 )

decreased a-wave amplitude ( J:234111 )

• the a-wave of homozygotes declines rapidly between 3 and 4 months of age, being decreased by 83% at 12 months of age, which is a slower loss than that found in imh (V9M) homozygotes

decreased b-wave amplitude ( J:234111 )

abnormal cone electrophysiology ( J:234111 )

• light-adapted ERG shows a diminution of the b-wave by 6 months of age and this gets worse with age, but is a later onset than that caused by the imh (V9M) point mutation

abnormal rod electrophysiology ( J:234111 )

• dark-adapted ERG shows a diminution of the b-wave by 4 months of age and this gets worse with age, but is a later onset than that caused by the imh (V9M) point mutation

growth/size/body

growth/size/body region phenotype ( J:234111 )

N • normal size and weight

mortality/aging

mortality/aging ( J:234111 )

N • normal lifespan

reproductive system

reproductive system phenotype ( J:234111 )

N • normal fertility

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinal degeneration		DOID:8466		J:234111