Phenotypes associated with this allele

• Allele Symbol: Prpf3^tm1.1Eap
• Allele Name: targeted mutation 1.1, Eric A Pierce
• Allele ID: MGI:4950562
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Prpf3^tm1.1Eap/Prpf3^tm1.1Eap	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4950564
ht2	Prpf3^tm1.1Eap/Prpf3^+	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4950565

Genotype
MGI:4950564

hm1

• Allelic Composition: Prpf3^tm1.1Eap/Prpf3^tm1.1Eap
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

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

vision/eye

vision/eye phenotype ( J:171561 )

N • no signs of photoreceptor degeneration are detected in mice at up to 24 months of age

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 24 months of age

• vacuoles are present in the RPE at 24 months of age

• changes in the RPE are more severe in homozygous mice compared to heterozygous mice

retina degeneration ( J:171561 )

• late onset degeneration of the retinal pigment epithelium

abnormal rod electrophysiology ( J:171561 )

• at 24 months of age, the maximal rod a wave is significantly reduced

pigmentation

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 24 months of age

• vacuoles are present in the RPE at 24 months of age

• changes in the RPE are more severe in homozygous mice compared to heterozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 18		DOID:0110356	OMIM:601414	J:171561

Genotype
MGI:4950565

ht2

• Allelic Composition: Prpf3^tm1.1Eap/Prpf3⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6 * SJL

vision/eye

vision/eye phenotype ( J:171561 )

N • no signs of photoreceptor degeneration are detected in mice at up to 24 months of age

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 24 months of age

• vacuoles are present in the RPE at 24 months of age

• changes in the RPE are more severe in homozygous mice compared to heterozygous mice

retina degeneration ( J:171561 )

• late onset degeneration of the retinal pigment epithelium

abnormal rod electrophysiology ( J:171561 )

• at 24 months of age, the maximal rod a wave is significantly reduced

pigmentation

abnormal retina pigment epithelium morphology ( J:171561 )

• loss of the basal infoldings and accumulation of amorphous deposits between the RPE and Bruch's membrane are seen at 24 months of age

• vacuoles are present in the RPE at 24 months of age

• changes in the RPE are more severe in homozygous mice compared to heterozygous mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 18		DOID:0110356	OMIM:601414	J:171561