Phenotypes associated with this allele

• Allele Symbol: Nmnat1^tm1Ruch
• Allele Name: targeted mutation 1, Rui Chen
• Allele ID: MGI:6272867
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nmnat1^tm1Ruch/Nmnat1^tm1Ruch	involves: 129S7/SvEvBrd	MGI:6272871
ht2	Nmnat1^tm1Ruch/Nmnat1^tm1d(EUCOMM)Wtsi	involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6J * C57BL/6N	MGI:6272874

Genotype
MGI:6272871

hm1

• Allelic Composition: Nmnat1^tm1Ruch/Nmnat1^tm1Ruch
• Genetic Background: involves: 129S7/SvEvBrd

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

normal phenotype

no abnormal phenotype detected ( J:267630 )

• mice are viable and fertile, show no retinal degeneration and normal retinal function, and mice subjected to strong white light for 4 hours show unaffected retinal morphology 2 weeks after exposure to the light damage

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	Leber congenital amaurosis 9	DOID:0110005	OMIM:608553	J:267630

Genotype
MGI:6272874

ht2

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

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