Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation
(6 available);
any
Rho mutation
(48 available)
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Retinal morphology of Rhotm1Jlem/Rho+ and Rhotm1Jlem/Rhotm1Jlem mice
vision/eye
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• absence of the outer segments
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• initial retinal development characterized by absence of outer segments
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• progressive degeneration of the outer nuclear layer
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• observed 90 days after birth
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• progressive degeneration completing around 90 days of age
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nervous system
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• absence of the outer segments
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation
(6 available);
any
Rho mutation
(48 available)
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vision/eye
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• the outer nuclear layer begins to degenerate at 4 weeks of age and is almost completely degenerated by 12 weeks of age
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• mice exhibit no a-waves at 4 weeks of age
• gene therapy with a microRNA sequence that specifically silences the pathogenic human rhodopsin gene and replacement with a rhodopsin that is resistant to this microRNA at P19 results in rescue of visual function
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• mice exhibit no b-waves at 4 weeks of age
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Allelic
Composition |
Rhotm1Jlem/Rho+
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Genetic
Background |
involves: 129S4/SvJae |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation
(6 available);
any
Rho mutation
(48 available)
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Retinal morphology of Rhotm1Jlem/Rho+ and Rhotm1Jlem/Rhotm1Jlem mice
vision/eye
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• 15 days of age, outer segments (OS) were ~50% shorter than those of wild-type
• by 90 days, the OS were slightly shorter than those of wild-type
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• by 90 days, the outer nuclear layer was reduced in thickness by one to two rows
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• decreased sensitivity to light
• accelerated flash-response kinetics
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nervous system
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• 15 days of age, outer segments (OS) were ~50% shorter than those of wild-type
• by 90 days, the OS were slightly shorter than those of wild-type
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Allelic
Composition |
RhoR3/Rhotm1Jlem
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Genetic
Background |
involves: 129S4/SvJae * C57BL/6J |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
RhoR3 mutation
(0 available);
any
Rho mutation
(48 available)
Rhotm1Jlem mutation
(6 available);
any
Rho mutation
(48 available)
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vision/eye
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• between 14 and 21 days of age, complex heterozygotes for these two alleles exhibit progressive loss of ONL nuclei of intermediate severity between that of RhoR3/+ and RhoR3 homozygous mice
• from 21 days, by which the homozygous ENU mutants entirely lack ONL nuclei, the compound heterozygotes retain approximately half as many as RhoR3/+ mice until both level out at day 35, RhoR3/+ mice with 2 rows of nuclei and the compound heterozygotes with a single row
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Rod reprogramming prevents retinal degeneration in tamoxifen treated Rhotm1Jlem/Rhotm1Jlem Nrltm1Jcco/Nrltm1Jcco Tg(CAG-cre/Esr1*)5Amc/0 mice
vision/eye
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N |
• photoreceptor death observed in Rhotm1Jlem homozygotes is prevented in tamoxifen-treated mice with preservation of rod cell bodies and inner segments and intact photopic b-wave over a wide range of flash intensities
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vision/eye
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• outer segments fail to form unlike in wild-type mice
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• photoreceptor loss is delayed compared to in Ahi1tm1Jgg homozygotes
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nervous system
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• outer segments fail to form unlike in wild-type mice
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• photoreceptor loss is delayed compared to in Ahi1tm1Jgg homozygotes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation
(6 available);
any
Rho mutation
(48 available)
Tg(RHO*P347S)A1Tili mutation
(0 available)
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vision/eye
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• mice exhibit a shortened outer segment at 4 weeks of age
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• the outer nuclear layer begins to degenerate at 4 weeks of age and is completely degenerated by 24 weeks of age
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• severe retinal degeneration at 1 month of age
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• 15-fold reduction in a- waves at 4 weeks of age and complete loss of a-waves at 12 weeks of age
• gene therapy with a microRNA sequence that specifically silences the pathogenic human rhodopsin gene and replacement with a rhodopsin that is resistant to this microRNA at P19 results in rescue of visual function
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• 3-fold reduction in b-waves at 4 weeks of age and complete loss of b-waves at 12 weeks of age
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nervous system
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• mice exhibit a shortened outer segment at 4 weeks of age
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Analysis Tools