Phenotypes associated with this allele

• Allele Symbol: Rs1^tm1Sie
• Allele Name: targeted mutation 1, Paul A Sieving
• Allele ID: MGI:3056058
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rs1^tm1Sie/Rs1^tm1Sie	involves: 129S/SvEv * C57BL/6J	MGI:3056343
ot2	Rs1^tm1Sie/Y	involves: 129S/SvEv * C57BL/6J	MGI:3056342

Genotype
MGI:3056343

hm1

• Allelic Composition: Rs1^tm1Sie/Rs1^tm1Sie
• Genetic Background: involves: 129S/SvEv * C57BL/6J

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

vision/eye

abnormal eye electrophysiology ( J:93040 )

♀ • diminished dark-adapted ERG b-wave

♀ • Irregular ERG with higher intensity stimulation

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked juvenile retinoschisis 1		DOID:0060763	OMIM:312700	J:93040

Genotype
MGI:3056342

ot2

• Allelic Composition: Rs1^tm1Sie/Y
• Genetic Background: involves: 129S/SvEv * C57BL/6J

vision/eye

abnormal retina morphology ( J:93040 )

♂

abnormal retina neuronal layer morphology ( J:93040 )

♂ • innermost "RGC" layer with increased number of cells and some mislocated

♂ • no progressive degeneration through six months of age

♂ • photoreceptor number in the outer nuclear layer slightly reduced

disorganized retina inner nuclear layer ( J:126934 )

♂ • large and frequent cavities from age 1 month, peaking at age 4 months and reducing from age 6 months

♂ • no cavities at age 16 months

disorganized retina outer nuclear layer ( J:126934 )

♂ • large and frequent cavities from age 1 month, peaking at age 4 months and reducing from age 6 months

♂ • no cavities at age 16 months

retina outer nuclear layer degeneration ( J:126934 )

♂ • progressive reduction in cell number

disorganized retina outer plexiform layer ( J:126934 )

♂ • large and frequent cavities from age 1 month, peaking at age 4 months and reducing from age 6 months

♂ • no cavities at age 16 months

abnormal retina photoreceptor layer morphology ( J:126934 )

♂ • some nuclei displaced from ONL to inner and outer segment

disorganized photoreceptor inner segment ( J:126934 )

♂ • disrupted alignment from age 1 month, peaking at age 4 months and progressively normalizing thereafter

short photoreceptor outer segment ( J:126934 )

♂ • at age 1 months and progressively declining from age 6 months

♂ • normal height at age 4 months

disorganized photoreceptor outer segment ( J:126934 )

♂ • disrupted alignment from age 1 month, peaking at age 4 months and progressively normalizing thereafter

disorganized retina layers ( J:93040 )

♂ • irregular laminations in the inner nuclear layer and outer plexiform layer

♂ • structural gaps in the inner nuclear layer

♂ • clumps of photoreceptor nuclei mislocated to the inner and outer segments

abnormal electroretinogram waveform feature ( J:126934 )

♂ • abnormal b/a wave ratio: lower up to age 6 months, then higher from age 8 months

decreased a-wave amplitude ( J:126934 )

♂ • progressive reduction with age at all stimulus intensity levels with scotopic ERG

decreased b-wave amplitude ( J:126934 )

♂ • progressive reduction with age at all stimulus intensity levels with scotopic ERG

abnormal eye electrophysiology ( J:93040 )

♂ • diminished dark-adapted ERG b-wave

♂ • Irregular ERG with higher intensity stimulation

nervous system

disorganized photoreceptor inner segment ( J:126934 )

♂ • disrupted alignment from age 1 month, peaking at age 4 months and progressively normalizing thereafter

short photoreceptor outer segment ( J:126934 )

♂ • at age 1 months and progressively declining from age 6 months

♂ • normal height at age 4 months

disorganized photoreceptor outer segment ( J:126934 )

♂ • disrupted alignment from age 1 month, peaking at age 4 months and progressively normalizing thereafter

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked juvenile retinoschisis 1		DOID:0060763	OMIM:312700	J:93040