Phenotypes Associated with This Genotype

Genotype
MGI:6790272

• Allelic Composition: Tg(Prnp-UBQLN2)WT-hiHlp/0
• Genetic Background: involves: C57BL/6 * SJL

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

vision/eye

abnormal retina photoreceptor morphology ( J:299301 )

• small spherical UBQLN2 puncta present at age 3 weeks

thin retina inner nuclear layer ( J:299301 )

• near absence at age 12 months

• normal at ages 3 and 8 weeks

thin retina outer nuclear layer ( J:299301 )

• 90% cell loss at age 8 weeks

• normal at age 3 weeks

decreased total retina thickness ( J:299301 )

• at age 8 weeks

• normal at age 3 weeks

decreased visual acuity ( J:299301 )

• unable to use visual cues to locate platform in Morris water maze test

cellular

cellular phenotype ( J:299301 )

N • normal autophagy in brain

nervous system

nervous system phenotype ( J:299301 )

N • normal brain lateral ventricular volume at age 18 months

abnormal retina photoreceptor morphology ( J:299301 )

• small spherical UBQLN2 puncta present at age 3 weeks

behavior/neurological

behavior/neurological phenotype ( J:299301 )

N • normal behavior in open field, balance beam and rotarod tests

N • normal behavior in fear conditioning test