Phenotypes associated with this allele

• Allele Symbol: Samd11^em1Tfur
• Allele Name: endonuclease-mediated mutation 1, Takahisa Furukawa
• Allele ID: MGI:7520290
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Samd11^em1Tfur/Samd11^em1Tfur	involves: 129S6/SvEvTac	MGI:7520353
cx2	Samd11^em1Tfur/Samd11^em1Tfur Samd7^tm1Tfur/Samd7^tm1Tfur	involves: 129S6/SvEvTac	MGI:7520354

Genotype
MGI:7520353

hm1

• Allelic Composition: Samd11^em1Tfur/Samd11^em1Tfur
• Genetic Background: involves: 129S6/SvEvTac

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

normal phenotype

no abnormal phenotype detected ( J:303740 )

• mice are viable and show no gross abnormalities, with no overt retinal phenotypes

Genotype
MGI:7520354

cx2

• Allelic Composition: Samd11^em1Tfur/Samd11^em1Tfur; Samd7^tm1Tfur/Samd7^tm1Tfur
• Genetic Background: involves: 129S6/SvEvTac

vision/eye

abnormal retina photoreceptor layer morphology ( J:303740 )

• retinas show wider and more loosely packed discs

abnormal photoreceptor outer segment morphology ( J:303740 )

• retina shows strong S-opsin signals in rod and cone outer segments

short photoreceptor outer segment ( J:303740 )

• retina shows reduced outer segment thickness at 2 months of age

• however, outer nuclear layer thickness is normal at 2 months and no degeneration is seen at 12 months of age

abnormal retina rod cell outer segment morphology ( J:303740 )

• the rod outer segment length is decreased by about 10%

disorganized photoreceptor outer segment ( J:303740 )

• the outer segments are disorganized but the photoreceptor disk structure of the outer segments is unaffected

abnormal eye physiology ( J:303740 )

• mice show lower sensitivity to low-to-moderate flash luminescence than controls and show delayed signal transmission from rods to rod bipolar cells at low flash luminescence

increased b-wave implicit time ( J:303740 )

• the implicit time of the b-wave on dark-adapted ERGs, indicating transduction process speed between rods and bipolar cells, is delayed in 2-month-old mice

• however, light-adapted ERGs show no difference in implicit times of photopic b-waves or a-waves

decreased a-wave amplitude ( J:303740 )

• dark-adapted (scotopic) ERGs show decreased a-wave amplitude at 2 months of age

decreased b-wave amplitude ( J:303740 )

• dark-adapted (scotopic) ERGs show decreased b-wave amplitude at 2 months of age

nervous system

abnormal photoreceptor outer segment morphology ( J:303740 )

• retina shows strong S-opsin signals in rod and cone outer segments

short photoreceptor outer segment ( J:303740 )

• retina shows reduced outer segment thickness at 2 months of age

• however, outer nuclear layer thickness is normal at 2 months and no degeneration is seen at 12 months of age

abnormal retina rod cell outer segment morphology ( J:303740 )

• the rod outer segment length is decreased by about 10%

disorganized photoreceptor outer segment ( J:303740 )

• the outer segments are disorganized but the photoreceptor disk structure of the outer segments is unaffected