All Phenotypes Prpf31<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Prpf31⁺
wild type
MGI:3053568

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Prpf31^{tm1a(EUCOMM)Wtsi}/Prpf31⁺	C57BL/6N-Prpf31^{tm1a(EUCOMM)Wtsi}/Nju	MGI:5757571
ht2	Prpf31^tm1.1Bha/Prpf31⁺	involves: 129S2/SvPas	MGI:4950568
ht3	Prpf31^tm1Bha/Prpf31⁺	involves: 129S2/SvPas * C57BL/6J	MGI:4438627

Allelic Composition	Prpf31^{tm1a(EUCOMM)Wtsi}/Prpf31⁺
Genetic Background	C57BL/6N-Prpf31^{tm1a(EUCOMM)Wtsi}/Nju
Cell Lines	EPD0256_6_G06

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf31^{tm1a(EUCOMM)Wtsi} mutation (0 available); any Prpf31 mutation (23 available)

Data Sources

IMPC Data for Prpf31

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

adipose tissue

increased total body fat amount ( J:211773 )

IMPC - MARC

growth/size/body

decreased lean body mass ( J:211773 )

IMPC - MARC

Allelic Composition	Prpf31^tm1.1Bha/Prpf31⁺
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf31^tm1.1Bha mutation (0 available); any Prpf31 mutation (23 available)

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

vision/eye

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 12 months of age

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 12 months of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa 11		DOID:0110408	OMIM:600138	J:171561

Allelic Composition	Prpf31^tm1Bha/Prpf31⁺
Genetic Background	involves: 129S2/SvPas * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf31^tm1Bha mutation (0 available); any Prpf31 mutation (23 available)

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

vision/eye

vision/eye phenotype ( J:158261 )

N	• mice exhibit normal eye histology and function

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	retinitis pigmentosa 11	DOID:0110408	OMIM:600138	J:158261

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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