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Phenotypes Associated with This Genotype
Genotype
MGI:2448896
Allelic
Composition
Rs1tmgc1/Rs1tmgc1
Genetic
Background
involves: C3H/Rl * C57BL/6
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No mouse lines available in IMSR.
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phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• microflecks and streaks seen in all males and about 61% of females
• possibly due to the undulating pattern of the outer nuclear layer and the presence of rosettes
• small patchy areas of RPE depigmentation and clumping
• layer split in some regions
• clusters of photoreceptor nuclei migrate into inner and sometimes outer segments of the photoreceptor by 10 weeks of age
• more prevalent at 18 months
• sometimes disrupted by cell bodies of inner and outer nuclear layers
• expanded into inner nuclear layer by 18 months of age
• considerably shortened by 18 months of age
• sometimes disrupted by presence of photoreceptor nuclei
• occasionally also affected by presence of photoreceptor nuclei
• disrupted lamination of the retina
(J:81149)
• reduced amplitude of a and b waves on electroretinograms, particularly at higher flash intensities (J:99982)

nervous system
• sometimes disrupted by presence of photoreceptor nuclei
• occasionally also affected by presence of photoreceptor nuclei

pigmentation
• small patchy areas of RPE depigmentation and clumping

Mouse Models of Human Disease
OMIM ID Ref(s)
Retinoschisis 1, X-Linked, Juvenile; RS1 312700 J:99982


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
07/19/2016
MGI 6.04
The Jackson Laboratory