Phenotypes Associated with This Genotype

Genotype
MGI:2448896

• Allelic Composition: Rs1^tmgc1/Rs1^tmgc1
• Genetic Background: involves: C3H/Rl * C57BL/6

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

vision/eye

abnormal ocular fundus morphology ( J:99982 )

♀ • 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

abnormal amacrine cell morphology ( J:81149 )

♀

abnormal retina pigment epithelium morphology ( J:81149 )

♀ • small patchy areas of RPE depigmentation and clumping

abnormal retina neuronal layer morphology ( J:99982 )

♀

abnormal retina inner nuclear layer morphology ( J:99982 )

♀ • layer split in some regions

abnormal retina outer nuclear layer morphology ( J:99982 )

♀ • clusters of photoreceptor nuclei migrate into inner and sometimes outer segments of the photoreceptor by 10 weeks of age

♀ • more prevalent at 18 months

abnormal retina outer plexiform layer morphology ( J:99982 )

♀ • sometimes disrupted by cell bodies of inner and outer nuclear layers

♀ • expanded into inner nuclear layer by 18 months of age

abnormal retina photoreceptor layer morphology ( J:99982 )

♀ • considerably shortened by 18 months of age

abnormal retina photoreceptor morphology ( J:81149 )

♀

abnormal photoreceptor inner segment morphology ( J:99982 )

♀ • sometimes disrupted by presence of photoreceptor nuclei

abnormal photoreceptor outer segment morphology ( J:99982 )

♀ • occasionally also affected by presence of photoreceptor nuclei

disorganized retina layers ( J:99982 )

♀ • disrupted lamination of the retina

abnormal eye electrophysiology ( J:81149 , J:99982 )

♀ (J:81149)

♀ • reduced amplitude of a and b waves on electroretinograms, particularly at higher flash intensities (J:99982)

nervous system

abnormal amacrine cell morphology ( J:81149 )

♀

abnormal retina photoreceptor morphology ( J:81149 )

♀

abnormal photoreceptor inner segment morphology ( J:99982 )

♀ • sometimes disrupted by presence of photoreceptor nuclei

abnormal photoreceptor outer segment morphology ( J:99982 )

♀ • occasionally also affected by presence of photoreceptor nuclei

pigmentation

abnormal retina pigment epithelium morphology ( J:81149 )

♀ • small patchy areas of RPE depigmentation and clumping

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked juvenile retinoschisis 1		DOID:0060763	OMIM:312700	J:99982