Phenotypes Associated with This Genotype

Genotype
MGI:6376646

• Allelic Composition: Arl2bp^em1Visu/Arl2bp^em1Visu
• Genetic Background: involves: 129S2/SvPasCrl * C57BL/6J * FVB/N

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

vision/eye

abnormal retina photoreceptor morphology ( J:280811 )

• mice exhibit shortened photoreceptor axonemes at P16

• distal regions of photoreceptor axonemes show a reduced number of singlet structures and the 9 + 0 arrangement of microtubular structures is not seen

abnormal photoreceptor connecting cilium morphology ( J:280811 )

• photoreceptor connecting cilium show abnormal doublet microtubules organization, with multiple microtubules possessing open B-tubules which are not seen in wild-type indicating defective inner junction B-tubule closure

abnormal photoreceptor outer segment morphology ( J:280811 )

• mice show distorted and ragged outer segments at P16

• mice show dysmorphic outer segments, which includes misoriented and irregular disks of variable diameters, fragmented outer segments, and membranous whorls at P17

abnormal photoreceptor outer segment disc membrane morphology ( J:280811 )

• outer segments show misoriented and irregular discs of variable diameters, with most discs aligned vertically rather than horizontally

disorganized photoreceptor outer segment ( J:280811 )

retina photoreceptor degeneration ( J:280811 )

• photoreceptor cell death is seen at P16 with significant degeneration by P210

• however, retinal lamination appears normal at P16 and development of inner neurons is normal, with no alteration in bipolar or horizontal cell numbers

retina cone cell degeneration ( J:280811 )

• progressive loss of cones

decreased a-wave amplitude ( J:280811 )

• mice show a 67% decrease in rod-driven (scotopic) ERG response (a wave) at P16, when mice are just opening their eyes with progressive loss of function with a 90% reduction in rod photoresponse by P210

• mice show a decrease in cone-driven (photopic) ERG response (a wave) at P16 that progressively declines with age

nervous system

abnormal retina photoreceptor morphology ( J:280811 )

• mice exhibit shortened photoreceptor axonemes at P16

• distal regions of photoreceptor axonemes show a reduced number of singlet structures and the 9 + 0 arrangement of microtubular structures is not seen

abnormal photoreceptor connecting cilium morphology ( J:280811 )

• photoreceptor connecting cilium show abnormal doublet microtubules organization, with multiple microtubules possessing open B-tubules which are not seen in wild-type indicating defective inner junction B-tubule closure

abnormal photoreceptor outer segment morphology ( J:280811 )

• mice show distorted and ragged outer segments at P16

• mice show dysmorphic outer segments, which includes misoriented and irregular disks of variable diameters, fragmented outer segments, and membranous whorls at P17

abnormal photoreceptor outer segment disc membrane morphology ( J:280811 )

• outer segments show misoriented and irregular discs of variable diameters, with most discs aligned vertically rather than horizontally

disorganized photoreceptor outer segment ( J:280811 )

retina photoreceptor degeneration ( J:280811 )

• photoreceptor cell death is seen at P16 with significant degeneration by P210

• however, retinal lamination appears normal at P16 and development of inner neurons is normal, with no alteration in bipolar or horizontal cell numbers

retina cone cell degeneration ( J:280811 )

• progressive loss of cones

cellular

abnormal photoreceptor connecting cilium morphology ( J:280811 )

• photoreceptor connecting cilium show abnormal doublet microtubules organization, with multiple microtubules possessing open B-tubules which are not seen in wild-type indicating defective inner junction B-tubule closure

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa with or without situs inversus		DOID:0110419	OMIM:615434	J:280811