Phenotypes Associated with This Genotype

Genotype
MGI:6384014

• Allelic Composition: Ptpn11^tm1Gsf/Ptpn11^tm1Gsf; Tg(Six3-cre)69Frty/0
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * DBA/2

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

vision/eye

retina ganglion cell degeneration ( J:174095 )

• increased apoptosis at age P10

• normal levels of apoptosis between ages E16 and P7

optic nerve atrophy ( J:174095 )

• much thinner and with numerous vacuoles at age P21

thin retina ganglion layer ( J:174095 )

• severe reduction at age P21 and P120

• normal at age P7

abnormal retina inner nuclear layer morphology ( J:174095 )

• increased apoptosis between age P10 and P14

thin retina inner nuclear layer ( J:174095 )

• normal at age P7

• severe reduction at age P21 and P120

thin retina inner plexiform layer ( J:174095 )

• severe reduction at age P21 and P120

• normal at age P7

thin retina outer nuclear layer ( J:174095 )

• normal at age P7

• severe reduction at age P21 and P120

retina outer nuclear layer degeneration ( J:174095 )

• much thinner at age P21

• rosette structures at age P21

• complete loss of photoreceptor cells in some parts at age P120

• increased apoptosis at age P21

• normal levels of apoptosis between ages E16 and P7

retina degeneration ( J:174095 )

• much thinner at age P21

• rosette structures in outer nuclear layer (ONL) at age P21

• absence of optic nerve fiber layer/inner limiting membrane layer (NFL/ILML) at age P21

• complete loss of photoreceptor cells in some parts of ONL at age P120

• increased apoptosis from age P10

• 50% reduction in all retinal neurons and Mueller glia cells at age P21

• reactive gliosis of Mueller glia cells at age P21

• normal levels of apoptosis between ages E16 and P7

decreased a-wave amplitude ( J:174095 )

• with scotopic ERG using very bright flashes at age 3 months

decreased b-wave amplitude ( J:174095 )

• with scotopic ERG using dim flashes at age 3 months

• with photopic ERG using double flashes at age 3 months

abnormal cone electrophysiology ( J:174095 )

• significantly reduced b wave amplitude with photopic ERG using double flashes at age 3 months

abnormal rod electrophysiology ( J:174095 )

• significantly reduced saturated a wave amplitude with scotopic ERG using very bright flashes at age 3 months

nervous system

retina ganglion cell degeneration ( J:174095 )

• increased apoptosis at age P10

• normal levels of apoptosis between ages E16 and P7

optic nerve atrophy ( J:174095 )

• much thinner and with numerous vacuoles at age P21