Phenotypes Associated with This Genotype

Genotype
MGI:5806094

• Allelic Composition: Tg(Rho-Arl3*Q71L)#Visu/0
• Genetic Background: involves: 129 * FVB/N

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

vision/eye

abnormal retina morphology ( J:235882 )

• the Golgi apparatus and endoplasmic reticulum appear dilated in the retina

• accumulation of endosomal vesicles in the retina

• mutants show reduced levels and mislocalization of prenylated phototransduction proteins in the retina, including prenylated phospohodiesterase catalytic subunits alpha and beta, farnesylated G-protein receptor kinase and trasducin gamma

abnormal photoreceptor inner segment morphology ( J:235882 )

• slight increase in endosome content within the inner segment

• Muller cell processes extend into the inner segment through the outer limiting membrane

• membranous whorls within the inner segment are frequently seen in P30 retina

abnormal photoreceptor outer segment morphology ( J:235882 )

• mice show a higher frequency of misoriented/disrupted outer segment membrane discs and there are fewer well-oriented outer segments

abnormal retina rod cell morphology ( J:235882 )

• defective rod photoreceptor cell migration, with a fraction of rod photoreceptor cells located in the inner nuclear layer/outer plexiform layer

abnormal retina rod cell outer segment morphology ( J:235882 )

• misoriented rod outer segment discs

retina rod cell degeneration ( J:235882 )

• by P70, most of the photoreceptor nuclei is lost, indicating rod photoreceptor cell degeneration

abnormal retina outer nuclear layer morphology ( J:235882 )

• the outer nuclear layer at superior and inferior regions of the retina is reduced at P70 but not at P30

abnormal a-wave shape ( J:235882 )

• recovery of scotopic a-wave is reduced in scotopic double flash (recovery) experiments at P20

• the scotopic a-wave is completely recovered after a 1500 ms delay in mutants compared to controls in which complete recovery occurs at a 1000 ms delay

decreased a-wave amplitude ( J:235882 )

• progressive loss of rod function and by P70, scotopic a-wave amplitude is almost completely lost

decreased b-wave amplitude ( J:235882 )

• photopic b-wave amplitude is slightly reduced at P70

abnormal rod electrophysiology ( J:235882 )

• reduction in rod photoresponse at P30, however no loss of photoreceptors is seen at this time

nervous system

abnormal photoreceptor inner segment morphology ( J:235882 )

• slight increase in endosome content within the inner segment

• Muller cell processes extend into the inner segment through the outer limiting membrane

• membranous whorls within the inner segment are frequently seen in P30 retina

abnormal photoreceptor outer segment morphology ( J:235882 )

• mice show a higher frequency of misoriented/disrupted outer segment membrane discs and there are fewer well-oriented outer segments

abnormal retina rod cell morphology ( J:235882 )

• defective rod photoreceptor cell migration, with a fraction of rod photoreceptor cells located in the inner nuclear layer/outer plexiform layer

abnormal retina rod cell outer segment morphology ( J:235882 )

• misoriented rod outer segment discs

retina rod cell degeneration ( J:235882 )

• by P70, most of the photoreceptor nuclei is lost, indicating rod photoreceptor cell degeneration

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 2		DOID:0110415	OMIM:312600	J:235882