Phenotypes Associated with This Genotype

Genotype
MGI:5903761

• Allelic Composition: Nmnat1^imh/Nmnat1^imh
• Genetic Background: B6J.C(C3H)-Nmnat1^imh

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

behavior/neurological

behavior/neurological phenotype ( J:234111 )

N • activity level and motor coordination are normal

impaired pupillary reflex ( J:234111 )

• older homozygotes show attenuated pupillary constriction in response to light

cardiovascular system

abnormal retina vasculature morphology ( J:234111 )

nervous system

photoreceptor inner segment degeneration ( J:234111 )

photoreceptor outer segment degeneration ( J:234111 )

• thinning is found as early as 1 month of age and by 4 months there is nearly complete degeneration

retina photoreceptor degeneration ( J:234111 )

growth/size/body

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

N • homozygotes are a normal size and weight

pigmentation

retina pigment epithelium atrophy ( J:234111 )

• depigmented patches are found by 8 months of age and spread to cover much of the retina by 10 and 15 months of age

mortality/aging

mortality/aging ( J:234111 )

N • life expectancy is normal

reproductive system

reproductive system phenotype ( J:234111 )

N • normal fertility

vision/eye

impaired pupillary reflex ( J:234111 )

• older homozygotes show attenuated pupillary constriction in response to light

abnormal retina vasculature morphology ( J:234111 )

photoreceptor inner segment degeneration ( J:234111 )

photoreceptor outer segment degeneration ( J:234111 )

• thinning is found as early as 1 month of age and by 4 months there is nearly complete degeneration

retina photoreceptor degeneration ( J:234111 )

retina pigment epithelium atrophy ( J:234111 )

• depigmented patches are found by 8 months of age and spread to cover much of the retina by 10 and 15 months of age

abnormal retina inner nuclear layer morphology ( J:234111 )

• the inner nuclear layer becomes increasingly disorganized and thinner by 15 months, but is normal for the first several months

thin retina inner nuclear layer ( J:234111 )

disorganized retina inner nuclear layer ( J:234111 )

thin retina outer nuclear layer ( J:234111 )

retina outer nuclear layer degeneration ( J:234111 )

• thinning is found as early as 1 month of age and by 4 months there is nearly complete degeneration

increased susceptibility to age-related retinal degeneration ( J:234111 )

• homozygotes have rapid loss of rod and cone function, with an ERG decrease of 35% in dark-adapted and 40% in light-adapted conditions at 1 month of age and both reach 70% loss by 2 months of age with no ERG response detectable at 4 months of age

• by 2 months of age the retinal vasculature is attenuated and at 4 months there is advanced degeneration of the photoreceptor layer and retinal thickness is reduced by 35% at 2 months of age, 45% at 4 months, and 57% at 15 months

decreased total retina thickness ( J:234111 )

decreased a-wave amplitude ( J:234111 )

• decreased by 91% by 2 months of age and absent by 4 months of age

decreased b-wave amplitude ( J:234111 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 9		DOID:0110005	OMIM:608553	J:234111