Phenotypes Associated with This Genotype

Genotype
MGI:6382447

• Allelic Composition: Arl13b^tm1.1Tc/Arl13b^tm1.1Tc; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * DBA/2

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

vision/eye

abnormal ocular fundus morphology ( J:272501 )

• extracellular vesicles (ectosomes) with uniform diameter are seen in the subretinal space at P10

abnormal photoreceptor connecting cilium morphology ( J:272501 )

• marker analysis indicates that axonemal/ciliary extension is disrupted in the retina

• photoreceptors show shorter ciliary rootlets at P10

• basal bodies are displaced and often seen within the inner segments adjacent to the outer limiting membrane indicating that basal bodies do not dock properly at the apical edge of the inner segments

short photoreceptor inner segment ( J:272501 )

• shorter photoreceptor inner segments at P10

abnormal photoreceptor outer segment morphology ( J:272501 )

• reduction of photoreceptor outer segment-resident proteins at P10

• P10 retinas show a complete absence of recognizable outer segments with a few outer segment rudiments that are highly vesiculated and lack the stacked discs

abnormal photoreceptor outer segment disc membrane morphology ( J:272501 )

• photoreceptors fail to develop outer segment membranous discs

short photoreceptor outer segment ( J:272501 )

retina photoreceptor degeneration ( J:272501 )

• photoreceptor cell death is seen at P10 and by P27, rapid photoreceptor degeneration with extensive loss is seen in the central retina compared with the peripheral edges

abnormal retina development ( J:272501 )

• initial development of photoreceptors is defective as indicated by a 58% and 71.4% decrease in the number of pHH3+ and Ki-67+ (proliferating) retinal progenitor cells, respectively, and a decrease in apoptosis in P5 retina

decreased total retina thickness ( J:272501 )

• retinal thickness is reduced at P5

abnormal electroretinogram waveform feature ( J:272501 )

• ERG analysis indicates a severe loss of rod (scotopic) and cone (photopic) photoreceptor function

nervous system

abnormal photoreceptor connecting cilium morphology ( J:272501 )

• marker analysis indicates that axonemal/ciliary extension is disrupted in the retina

• photoreceptors show shorter ciliary rootlets at P10

• basal bodies are displaced and often seen within the inner segments adjacent to the outer limiting membrane indicating that basal bodies do not dock properly at the apical edge of the inner segments

short photoreceptor inner segment ( J:272501 )

• shorter photoreceptor inner segments at P10

abnormal photoreceptor outer segment morphology ( J:272501 )

• reduction of photoreceptor outer segment-resident proteins at P10

• P10 retinas show a complete absence of recognizable outer segments with a few outer segment rudiments that are highly vesiculated and lack the stacked discs

abnormal photoreceptor outer segment disc membrane morphology ( J:272501 )

• photoreceptors fail to develop outer segment membranous discs

short photoreceptor outer segment ( J:272501 )

retina photoreceptor degeneration ( J:272501 )

• photoreceptor cell death is seen at P10 and by P27, rapid photoreceptor degeneration with extensive loss is seen in the central retina compared with the peripheral edges

cellular

abnormal photoreceptor connecting cilium morphology ( J:272501 )

• marker analysis indicates that axonemal/ciliary extension is disrupted in the retina

• photoreceptors show shorter ciliary rootlets at P10

• basal bodies are displaced and often seen within the inner segments adjacent to the outer limiting membrane indicating that basal bodies do not dock properly at the apical edge of the inner segments