Phenotypes associated with this allele

• Allele Symbol: Rs1^em1Fegu
• Allele Name: endonuclease-mediated mutation 1, Feng Gu
• Allele ID: MGI:6383470
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
ot1	Rs1^em1Fegu/Y	involves: C57BL/6J	MGI:6383471

Genotype
MGI:6383471

ot1

• Allelic Composition: Rs1^em1Fegu/Y
• Genetic Background: involves: C57BL/6J

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

vision/eye

abnormal retina morphology ( J:282252 )

♂ • retinal structure is disordered

abnormal retina neuronal layer morphology ( J:282252 )

♂ • mice show a split in outer plexiform layer and inner nuclear layer at 6 weeks of age

abnormal retina photoreceptor morphology ( J:282252 )

♂ • the inner segment and outer segment of photoreceptors become indistinct

♂ • some clumps of photoreceptor nuclei migrate into the inner and outer segment zones

photoreceptor inner segment degeneration ( J:282252 )

♂ • loss of outer segments

short photoreceptor inner segment ( J:282252 )

♂

decreased photoreceptor outer segment number ( J:282252 )

♂ • apoptosis of outer segments resulting in a reduced number of outer segments

disorganized retina inner nuclear layer ( J:282252 )

♂ • structure of the inner nuclear layer is disorganized

♂ • cavities are seen in the inner nuclear layer

thin retina outer nuclear layer ( J:282252 )

♂ • overall thickness of the outer nuclear layer is slightly decreased

disorganized retina outer nuclear layer ( J:282252 )

♂ • disarray of the outer nuclear layer

abnormal retina outer plexiform layer morphology ( J:282252 )

♂ • cavities in the outer plexiform layer are seen at 4 weeks of age

disorganized retina outer plexiform layer ( J:282252 )

♂ • structure of the outer plexiform layer is disorganized

decreased b-wave amplitude ( J:282252 )

♂ • b-wave amplitude is reduced

♂ • however, the a-wave amplitude is not reduced

abnormal eye electrophysiology ( J:282252 )

♂ • the b wave of ERG is reduced in all dark and light adapted tests and a-wave of ERG is reduced

♂ • the b/a ratio of rod shows differences from wild-type mice; the signal of the vision is blocked from the plexiform layer to inner nuclear layer

nervous system

abnormal retina photoreceptor morphology ( J:282252 )

♂ • the inner segment and outer segment of photoreceptors become indistinct

♂ • some clumps of photoreceptor nuclei migrate into the inner and outer segment zones

photoreceptor inner segment degeneration ( J:282252 )

♂ • loss of outer segments

short photoreceptor inner segment ( J:282252 )

♂

decreased photoreceptor outer segment number ( J:282252 )

♂ • apoptosis of outer segments resulting in a reduced number of outer segments

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked juvenile retinoschisis 1		DOID:0060763	OMIM:312700	J:282252