Phenotypes associated with this allele

• Allele Symbol: Prph2^Nmf193
• Allele Name: neuroscience mutagenesis facility, 193
• Allele ID: MGI:3038638
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prph2^Nmf193/Prph2^Nmf193	C57BL/6J-Prph2^Nmf193	MGI:3846407
ht2	Prph2^Nmf193/Prph2^+	C57BL/6J-Prph2^Nmf193	MGI:3846408
ot3	Prph2^Nmf193/?	C57BL/6J-Prph2^Nmf193/J	MGI:3038639

Genotype
MGI:3846407

hm1

• Allelic Composition: Prph2^Nmf193/Prph2^Nmf193
• Genetic Background: C57BL/6J-Prph2^Nmf193

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

nervous system

absent photoreceptor outer segment ( J:148636 )

• the outer segment is absent by 1 month of age

vision/eye

absent photoreceptor outer segment ( J:148636 )

• the outer segment is absent by 1 month of age

retina outer nuclear layer degeneration ( J:148636 )

• outer nuclear layer is just 4 cells thick at 1 month of age and just 2 cell thick at 6 months of age

increased susceptibility to age-related retinal degeneration ( J:148636 )

• retinal generation is evident at about 2 weeks of age with areas of hypopigmentation

• majority of the retina is affected by 3 months of age

abnormal cone electrophysiology ( J:148636 )

• mice have cell cone function that is only 31.6% of normal at 2 months of age compared to controls

• cell cone function is completely lost by 10 months of age

abnormal rod electrophysiology ( J:148636 )

• mice have little rod cell function at 2 months of age

Genotype
MGI:3846408

ht2

• Allelic Composition: Prph2^Nmf193/Prph2⁺
• Genetic Background: C57BL/6J-Prph2^Nmf193

vision/eye

abnormal retina vasculature morphology ( J:148636 )

• vasculature drops out as retinas degenerate with only remnants available by 9 months of age

increased retina apoptosis ( J:148636 )

• retinal neurons have increased rates of apoptosis at 1.5 months of age

short photoreceptor outer segment ( J:148636 )

• outer segment layer is shorter than wild-type at 6 weeks of age

disorganized retina outer nuclear layer ( J:148636 )

• many displaced nuclei are observed in the outer segment at 6 months of age compared to controls

retina outer nuclear layer degeneration ( J:148636 )

• the outer nuclear layer is reduced by 70% compared to controls at 6 months of age

• by 10 months of age the outer nuclear layer is 4 cells thick

retina spots ( J:148636 )

• a few bright retinal spots are evident at 1.5 months of age

• spots have an increased density at 3 months of age and involve a majority of the retina of 9 months of age

abnormal cone electrophysiology ( J:148636 )

• mice have cell cone function that is only 84.6% of normal at 2 months of age compared to controls

• cone cell function is reduced to 63.9% of normal at 10 months of age

abnormal rod electrophysiology ( J:148636 )

• mice have rod cone function that is only 68.4% of normal at 2 months of age compared to controls

• rod cell function is reduced to 43.6% of normal at 10 months of age

nervous system

short photoreceptor outer segment ( J:148636 )

• outer segment layer is shorter than wild-type at 6 weeks of age

cardiovascular system

abnormal retina vasculature morphology ( J:148636 )

• vasculature drops out as retinas degenerate with only remnants available by 9 months of age

cellular

increased retina apoptosis ( J:148636 )

• retinal neurons have increased rates of apoptosis at 1.5 months of age

Genotype
MGI:3038639

ot3

• Allelic Composition: Prph2^Nmf193/?
• Genetic Background: C57BL/6J-Prph2^Nmf193/J

vision/eye

abnormal retina morphology ( J:87349 )

• routine ophthalmoscopic examination at 8 weeks of age revealed a mottled retina, indicating potential retinal degeneration