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Phenotypes Associated with This Genotype
Genotype
MGI:3056342
Allelic
Composition
Rs1tm1Sie/Y
Genetic
Background
involves: 129S/SvEv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rs1tm1Sie mutation (0 available); any Rs1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• 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
• 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
• 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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory