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Phenotypes Associated with This Genotype
Genotype
MGI:6378570
Allelic
Composition
Rhotm1Jlem/Rhotm1Jlem
Tg(RHO*P347S)A1Tili/0
Genetic
Background
involves: 129S4/SvJae * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rhotm1Jlem mutation (7 available); any Rho mutation (13 available)
Tg(RHO*P347S)A1Tili mutation (0 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
vision/eye
• mice exhibit a shortened outer segment at 4 weeks of age
• the outer nuclear layer begins to degenerate at 4 weeks of age and is completely degenerated by 24 weeks of age
• severe retinal degeneration at 1 month of age
• 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
• 3-fold reduction in b-waves at 4 weeks of age and complete loss of b-waves at 12 weeks of age

nervous system
• mice exhibit a shortened outer segment at 4 weeks of age

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
retinitis pigmentosa 4 DOID:0110372 OMIM:613731
J:280289


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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last database update
03/24/2020
MGI 6.15
The Jackson Laboratory