Phenotypes associated with this allele

• Allele Symbol: Pde6b⁺
• Allele Name: wild type
• Allele ID: MGI:2430003
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Pde6a^nmf363/Pde6a^+ Pde6b^rd1-2J/Pde6b^+	C57BL/6J-Pde6b^rd1-2J Pde6a^nmf363	MGI:3828997
cx2	Pde6a^nmf282/Pde6a^+ Pde6b^rd1-2J/Pde6b^+	involves: A/J * C57BL/6J	MGI:3828996
cx3	Chsy1^skt/Chsy1^skt Pde6b^+/Pde6b^+	mixed	MGI:6414594

Genotype
MGI:3828997

cx1

• Allelic Composition: Pde6a^nmf363/Pde6a⁺; Pde6b^rd1-2J/Pde6b⁺
• Genetic Background: C57BL/6J-Pde6b^rd1-2J Pde6a^nmf363

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

vision/eye

vision/eye phenotype ( J:142108 )

N • a and b wave response is normal at 5 to 6 months of age

Genotype
MGI:3828996

cx2

• Allelic Composition: Pde6a^nmf282/Pde6a⁺; Pde6b^rd1-2J/Pde6b⁺
• Genetic Background: involves: A/J * C57BL/6J

vision/eye

vision/eye phenotype ( J:142108 )

N • a and b wave response is normal at 5 to 6 months of age

Genotype
MGI:6414594

cx3

• Allelic Composition: Chsy1^skt/Chsy1^skt; Pde6b⁺/Pde6b⁺
• Genetic Background: mixed

cellular

abnormal extracellular matrix morphology ( J:286529 )

• this disruption in the synthesis of chondroitin sulfate glycosaminoglycans is evident in retinal interphotoreceptor matrix and hippocampus

immune system

decreased neutrophil cell number ( J:286529 )

• significant reduction in neutrophils in the bone marrow but not the spleen

decreased macrophage cell number ( J:286529 )

• diminished numbers of macrophages in the bone marrow and spleen

microgliosis ( J:286529 )

• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age

kidney inflammation ( J:286529 )

• CD45+ inflammatory cells are found

hematopoietic system

decreased neutrophil cell number ( J:286529 )

• significant reduction in neutrophils in the bone marrow but not the spleen

decreased macrophage cell number ( J:286529 )

• diminished numbers of macrophages in the bone marrow and spleen

microgliosis ( J:286529 )

• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age

behavior/neurological

hunched posture ( J:286529 )

• develops in older mice

nervous system

microgliosis ( J:286529 )

• increased transitioning and activated microglia in the retinal outer plexiform layer and outer nuclear layer at 4 weeks and retinal outer nuclear layer and retinal pigment epithelium at 8 weeks of age, and in the hippocampus CA1, CA2, and CA3 at 4 weeks, 8 weeks and 1.5 years of age

abnormal photoreceptor outer segment morphology ( J:286529 )

• rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures

disorganized photoreceptor outer segment ( J:286529 )

photoreceptor outer segment degeneration ( J:286529 )

neurodegeneration ( J:286529 )

hippocampal neuron degeneration ( J:286529 )

• at 1.5 years of age an increasing number of empty spaces are found surrounding cells in the CA1, CA2, and CA3 and a loss of wolframin ER transmembrane glycoprotein stained cells

retina photoreceptor degeneration ( J:286529 )

limbs/digits/tail

kinked tail ( J:286529 )

growth/size/body

decreased body size ( J:286529 )

vision/eye

abnormal photoreceptor outer segment morphology ( J:286529 )

• rhodopsin staining shows disrupted outer segment morphology with disorganized and undefined columnar and tip structures

disorganized photoreceptor outer segment ( J:286529 )

photoreceptor outer segment degeneration ( J:286529 )

retina photoreceptor degeneration ( J:286529 )

abnormal retina outer nuclear layer morphology ( J:286529 )

• absent chondroitin sulfate proteoglycans, ectopic synaptic interactions between photoreceptor and bipolar cells, increased apoptosis and progressive photoreceptor cell degeneration

thin retina outer nuclear layer ( J:286529 )

retina outer nuclear layer degeneration ( J:286529 )

decreased a-wave amplitude ( J:286529 )

decreased b-wave amplitude ( J:286529 )

abnormal rod electrophysiology ( J:286529 )

• scotopic ERG at 8 weeks of age shows decreased a and b wave amplitudes

mortality/aging

premature death ( J:286529 )

• average lifespan of homozygotes is 20 months instead of 27 months

integument

premature hair loss ( J:286529 )

• found in older mice

renal/urinary system

kidney inflammation ( J:286529 )

• CD45+ inflammatory cells are found