Phenotypes Associated with This Genotype

Genotype
MGI:5548299

• Allelic Composition: Rorb^tm1.1Df/Rorb^tm1.1Df
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

vision/eye

vision/eye phenotype ( J:242481 )

N • photoreceptors retain inner and outer segments

absent amacrine cells ( J:205743 )

decreased retina rod cell number ( J:242481 )

• moderate

increased retina cone cell number ( J:242481 )

• 2-fold

• however, cells are normally localized to the first quarter of the outer nuclear layer

abnormal retina ganglion cell morphology ( J:205743 )

• mis-located in the retinal inner plexiform layer

increased retina ganglion cell number ( J:205743 )

• 2-fold at embryonic and neonatal stages

absent retina horizontal cells ( J:205743 )

abnormal retina development ( J:205743 )

• failure of amacrine and horizontal cell development as determined by the absence of marker expression from early stages

• however, cell proliferation at E12.5 and P1 is normal

thin retina inner nuclear layer ( J:205743 )

abnormal retina inner plexiform layer morphology ( J:205743 )

• collapsed

disorganized retina outer plexiform layer ( J:205743 )

abnormal cone electrophysiology ( J:242481 )

• no scotopic or phototopic responsesno scotopic or phototopic responses

abnormal rod electrophysiology ( J:242481 )

• no scotopic or phototopic responses

behavior/neurological

abnormal gait ( J:205743 )

• exaggerated raising of the hindlimbs as in null homozygotes

nervous system

absent amacrine cells ( J:205743 )

decreased retina rod cell number ( J:242481 )

• moderate

increased retina cone cell number ( J:242481 )

• 2-fold

• however, cells are normally localized to the first quarter of the outer nuclear layer

abnormal retina ganglion cell morphology ( J:205743 )

• mis-located in the retinal inner plexiform layer

increased retina ganglion cell number ( J:205743 )

• 2-fold at embryonic and neonatal stages

absent retina horizontal cells ( J:205743 )