Phenotypes Associated with This Genotype

Genotype
MGI:6272874

• Allelic Composition: Nmnat1^tm1Ruch/Nmnat1^{tm1d(EUCOMM)Wtsi}
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6J * C57BL/6N

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

vision/eye

photoreceptor outer segment degeneration ( J:267630 )

• marker analysis shows loss of both rod and cone photoreceptor outer segments in 12 month old mice

retina photoreceptor degeneration ( J:267630 )

• by 12 months of age, about 40% of photoreceptors are degenerated

• mice subjected to strong white light for 4 hours show marked photoreceptor degeneration 2 weeks after exposure to light damage

retina outer nuclear layer degeneration ( J:267630 )

• retinal degeneration in the outer nuclear layer is seen at 5 months of age

retina degeneration ( J:267630 )

decreased a-wave amplitude ( J:267630 )

• ERG on dark-adapted mice under scotopic conditions shows a reduction in the amplitudes of rod-generated a-waves starting at 5 months of age which becomes more pronounced with increasing age

• mice subjected to strong white light for 4 hours show a reduction in scotopic a-wave (rod cells) responses in light-damaged retinas

decreased b-wave amplitude ( J:267630 )

• mice subjected to strong white light for 4 hours show a reduction in b-wave (bipolar cells) responses in light-damaged retinas

nervous system

photoreceptor outer segment degeneration ( J:267630 )

• marker analysis shows loss of both rod and cone photoreceptor outer segments in 12 month old mice

retina photoreceptor degeneration ( J:267630 )

• by 12 months of age, about 40% of photoreceptors are degenerated

• mice subjected to strong white light for 4 hours show marked photoreceptor degeneration 2 weeks after exposure to light damage

cellular

increased endoplasmic reticulum stress ( J:267630 )

• marker analysis indicates that light-induced retinal damage triggers ER stress

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 9		DOID:0110005	OMIM:608553	J:267630