About   Help   FAQ
Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Prpf8+
wild type
MGI:2435398
Summary 2 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
ht1
 		Prpf8em1(IMPC)Bay/Prpf8+ C57BL/6N-Prpf8em1(IMPC)Bay/BayMmucd MGI:7472183
ht2
 		Prpf8tm1.1Eap/Prpf8+ involves: 129S6/SvEvTac * C57BL/6 * SJL MGI:4950567


Genotype
MGI:7472183
ht1
Allelic
Composition		 Prpf8em1(IMPC)Bay/Prpf8+
Genetic
Background		 C57BL/6N-Prpf8em1(IMPC)Bay/BayMmucd
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf8em1(IMPC)Bay mutation (1 available); any Prpf8 mutation (88 available)
Data Sources
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cardiovascular system

embryo

growth/size/body
embryonic growth retardation ( J:211773 )
IMPC - BCM
abnormal embryo size ( J:211773 )
IMPC - BCM




Genotype
MGI:4950567
ht2
Allelic
Composition		 Prpf8tm1.1Eap/Prpf8+
Genetic
Background		 involves: 129S6/SvEvTac * C57BL/6 * SJL
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf8tm1.1Eap 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
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

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 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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
06/12/2024
MGI 6.13 		The Jackson Laboratory