Phenotypes associated with this allele

• Allele Symbol: Rs1^tm3.1Rom
• Allele Name: targeted mutation 3.1, Carmelo Romano
• Allele ID: MGI:6404929
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Rs1^tm3.1Rom/Rs1^+	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:6404954
ot2	Rs1^tm3.1Rom/Y	involves: 129S6/SvEvTac * C57BL/6NTac	MGI:6404948

Genotype
MGI:6404954

ht1

• Allelic Composition: Rs1^tm3.1Rom/Rs1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

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

vision/eye

vision/eye phenotype ( J:285517 )

♀N • mice do not exhibit retinal schisis and show normal ERGs

Genotype
MGI:6404948

ot2

• Allelic Composition: Rs1^tm3.1Rom/Y
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6NTac

nervous system

abnormal Muller cell morphology ( J:285517 )

♂ • activated Muller cell processes are seen across the outer nuclear layer

abnormal astrocyte morphology ( J:285517 )

♂ • density of astrocyte processes is increased, reflecting either increased numbers or activation of the cells

abnormal innervation ( J:285517 )

♂ • numerous dendritic processes of synaptotagmin II+ bipolar cells invade the outer nuclear layer indicating aberrant sprouting

♂ • ectopic outer nuclear layer sprouting of cone bipolar cells

♂ • cone bipolar cell projections into the inner nuclear layer are seen

♂ • aberrant sprouting is also seen in rod bipolar cells and PKC+ rod bipolar cell dendrites are seen to extend toward and into the outer nuclear layer

♂ • calbindin+ horizontal cells extend their neurites into the outer nuclear layer compared to their normal termination in the outer plexiform layer in wild-type mice

abnormal retina cone cell morphology ( J:285517 )

♂ • cone pedicles are malformed

short retina cone cell outer segment ( J:285517 )

♂ • cone outer segments are shortened

abnormal neuron physiology ( J:285517 )

♂ • retinal ganglion cells (RGCs) show an increase in spontaneous firing rate, in both ON- and OFF-type RGCs

♂ • both excitatory and inhibitory inputs show aberrant activity in retinal ganglion cells

vision/eye

abnormal retina morphology ( J:285517 )

♂ • retinal phenotypes are less severe than in Rs1^tm1.1Rom hemizygous males

♂ • outer retinal thickness is reduced from P15 to P21

abnormal Muller cell morphology ( J:285517 )

♂ • activated Muller cell processes are seen across the outer nuclear layer

abnormal retina layer morphology ( J:285517 )

♂ • retinal schisis is apparent until later adult stages when it becomes less apparent

♂ • schisis severity peaks at P18

abnormal retina cone cell morphology ( J:285517 )

♂ • cone pedicles are malformed

short retina cone cell outer segment ( J:285517 )

♂ • cone outer segments are shortened

thin retina outer nuclear layer ( J:285517 )

♂

abnormal electroretinogram waveform feature ( J:285517 )

♂ • dark-adapted ERG is reduced in amplitude

♂ • the light-adapted cone ERG is reduced in amplitude at P15, P24, and 10 weeks of age

♂ • the b-wave is reduced more than the a-wave, indicating a negative ERG waveform

decreased a-wave amplitude ( J:285517 )

♂ • dark-adapted a-wave amplitude is reduced at P15, P24, and 10 weeks of age

decreased b-wave amplitude ( J:285517 )

♂ • dark-adapted b-wave amplitude is reduced at P15, P24, and 10 weeks of age with the greatest ERG b-wave reduction at P15 and P24

♂ • light-adapted b-wave amplitude is reduced at P15, P24, and 10 weeks of age

abnormal eye electrophysiology ( J:285517 )

♂ • retinal ganglion cell electrophysiology shows elevated activity in the absence of a visual stimulus and reduced signal-to-noise ratios in response to light stimuli

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked juvenile retinoschisis 1		DOID:0060763	OMIM:312700	J:285517