Phenotypes Associated with This Genotype

Genotype
MGI:6378570

• Allelic Composition: Rho^tm1Jlem/Rho^tm1Jlem; Tg(RHO*P347S)A1Tili/0
• Genetic Background: involves: 129S4/SvJae * FVB/N

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

vision/eye

short photoreceptor outer segment ( J:280289 )

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

retina outer nuclear layer degeneration ( J:280289 )

• the outer nuclear layer begins to degenerate at 4 weeks of age and is completely degenerated by 24 weeks of age

retina degeneration ( J:280289 )

• severe retinal degeneration at 1 month of age

abnormal a-wave shape ( J:280289 )

• 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

absent b-wave ( J:280289 )

• 3-fold reduction in b-waves at 4 weeks of age and complete loss of b-waves at 12 weeks of age

nervous system

short photoreceptor outer segment ( J:280289 )

• 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