All Phenotypes Prpf8<tm1.1Eap> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Prpf8^tm1.1Eap
targeted mutation 1.1, Eric A Pierce
MGI:4950563

Summary

2 genotypes

Allelic Composition	Prpf8^tm1.1Eap/Prpf8^tm1.1Eap
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf8^tm1.1Eap mutation (0 available); any Prpf8 mutation (88 available)

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

vision/eye

vision/eye phenotype ( J:171561 )

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

• 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

pigmentation

• 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 13		DOID:0110403	OMIM:600059	J:171561

Allelic Composition	Prpf8^tm1.1Eap/Prpf8⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf8^tm1.1Eap mutation (0 available); any Prpf8 mutation (88 available)

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

vision/eye

vision/eye phenotype ( J:171561 )

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

• 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

pigmentation

• 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 13		DOID:0110403	OMIM:600059	J:171561

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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