Phenotypes associated with this allele

• Allele Symbol: Pde6g^tm1Goff
• Allele Name: targeted mutation 1, Stephen P Goff
• Allele ID: MGI:2677504
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pde6g^tm1Goff/Pde6g^tm1Goff	either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)	MGI:3814998
cx2	Pde6b^rd1/Pde6b^rd1 Pde6g^tm1Goff/Pde6g^tm1Goff	either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)	MGI:3814999

Genotype
MGI:3814998

hm1

• Allelic Composition: Pde6g^tm1Goff/Pde6g^tm1Goff
• Genetic Background: either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)

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

vision/eye

abnormal retina photoreceptor layer morphology ( J:33048 )

• at 8 weeks of age, mice lack any photoreceptor layer

decreased retina photoreceptor cell number ( J:33048 )

• between P14 and P21 mice exhibit a progressive loss of photoreceptors that is more severe in central areas of the retina than in peripheral areas

disorganized photoreceptor outer segment ( J:33048 )

• at P10

photoreceptor outer segment degeneration ( J:33048 )

• most of the outer segment is lost by P13

abnormal eye electrophysiology ( J:33048 )

• mice exhibit diminished a and b wave components compared to wild type mice with a delay in the b wave implicit time

• diminished eye electrophysiological response worsens with age

nervous system

decreased retina photoreceptor cell number ( J:33048 )

• between P14 and P21 mice exhibit a progressive loss of photoreceptors that is more severe in central areas of the retina than in peripheral areas

disorganized photoreceptor outer segment ( J:33048 )

• at P10

photoreceptor outer segment degeneration ( J:33048 )

• most of the outer segment is lost by P13

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:33048

Genotype
MGI:3814999

cx2

• Allelic Composition: Pde6b^rd1/Pde6b^rd1; Pde6g^tm1Goff/Pde6g^tm1Goff
• Genetic Background: either: (involves: 129S/SvEv * C57BL/6 * MF1 * Swiss Webster) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * MF1 * Swiss Webster)

vision/eye

abnormal retina photoreceptor layer morphology ( J:33048 )

• mice exhibit a degeneration of the photoreceptor layer similar to in Pde6g^tm1Goff or Pde6b^rd1 homozygotes

abnormal eye electrophysiology ( J:33048 )

• mice exhibit diminished a and b wave components compared to wild type mice with a delay in the b wave implicit time

• diminished eye electrophysiological response worsens with age