All Phenotypes Rs1<tmgc1> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rs1^tmgc1/Rs1^tmgc1	involves: C3H/Rl * C57BL/6	MGI:2448896
cx2	Morq1^AKR/J/Morq1^AKR/J Rs1^tmgc1/Y	B6.Cg-Rs1^tmgc1 Morq1^AKR/J	MGI:3784608
cx3	Morq1^AKR/J/Morq1^AKR/J Rs1^tmgc1/Rs1^tmgc1	B6.Cg-Rs1^tmgc1 Morq1^AKR/J	MGI:3784609
cx4	Morq1^AKR/J/Morq1^AKR/J Rs1^tmgc1/Y	involves: AKR/J * C3H/Rl * C57BL/6JRn	MGI:3784605
cx5	Morq1^AKR/J/Morq1^C57BL/6JRn Rs1^tmgc1/Y	involves: AKR/J * C3H/Rl * C57BL/6JRn	MGI:3784606
cx6	Morq1^AKR/J/Morq1^C3H/Rl Rs1^tmgc1/Y	involves: AKR/J * C3H/Rl * C57BL/6JRn	MGI:3784607

♀	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

Allelic Composition	Morq1^AKR/J/Morq1^AKR/J Rs1^tmgc1/Y
Genetic Background	B6.Cg-Rs1^tmgc1 Morq1^AKR/J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Morq1^AKR/J mutation (0 available); any Morq1 mutation (0 available)
Rs1^tmgc1 mutation (0 available); any Rs1 mutation (6 available)

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

vision/eye

abnormal retina neuronal layer morphology ( J:133513 )

• resistance to retinal schisis

Allelic Composition	Morq1^AKR/J/Morq1^AKR/J Rs1^tmgc1/Rs1^tmgc1
Genetic Background	B6.Cg-Rs1^tmgc1 Morq1^AKR/J

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

vision/eye

abnormal retina neuronal layer morphology ( J:133513 )

• resistance to retinal schisis

Allelic Composition	Morq1^AKR/J/Morq1^AKR/J Rs1^tmgc1/Y
Genetic Background	involves: AKR/J * C3H/Rl * C57BL/6JRn

Find Mice

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

vision/eye

abnormal retina neuronal layer morphology ( J:133513 )

• resistance to retinal schisis

Allelic Composition	Morq1^AKR/J/Morq1^C57BL/6JRn Rs1^tmgc1/Y
Genetic Background	involves: AKR/J * C3H/Rl * C57BL/6JRn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Morq1^AKR/J mutation (0 available); any Morq1 mutation (0 available)
Morq1^C57BL/6JRn mutation (0 available); any Morq1 mutation (0 available)
Rs1^tmgc1 mutation (0 available); any Rs1 mutation (6 available)

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

vision/eye

abnormal retina neuronal layer morphology ( J:133513 )

• susceptibility to retinal schisis

Allelic Composition	Morq1^AKR/J/Morq1^C3H/Rl Rs1^tmgc1/Y
Genetic Background	involves: AKR/J * C3H/Rl * C57BL/6JRn

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Morq1^AKR/J mutation (0 available); any Morq1 mutation (0 available)
Morq1^C3H/Rl mutation (0 available); any Morq1 mutation (0 available)
Rs1^tmgc1 mutation (0 available); any Rs1 mutation (6 available)

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

vision/eye

abnormal retina neuronal layer morphology ( J:133513 )

• susceptibility to retinal schisis

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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