All Phenotypes Prpf3<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Prpf3⁺
wild type
MGI:3049333

Summary

3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Prpf3^{tm1b(KOMP)Wtsi}/Prpf3⁺	C57BL/6N-Prpf3^{tm1b(KOMP)Wtsi}/Bay	MGI:6263241
ht2	Prpf3^{Gt(RRO284)Byg}/Prpf3⁺	involves: 129P2/OlaHsd * C57BL/6	MGI:3820247
ht3	Prpf3^tm1.1Eap/Prpf3⁺	involves: 129S6/SvEvTac * C57BL/6 * SJL	MGI:4950565

Allelic Composition	Prpf3^{tm1b(KOMP)Wtsi}/Prpf3⁺
Genetic Background	C57BL/6N-Prpf3^{tm1b(KOMP)Wtsi}/Bay
Cell Lines	EPD0613_4_A01

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf3^{tm1b(KOMP)Wtsi} mutation (0 available); any Prpf3 mutation (35 available)

Data Sources

IMPC Data for Prpf3

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

hematopoietic system

increased neutrophil cell number ( J:211773 )

IMPC - HAR

immune system

increased neutrophil cell number ( J:211773 )

IMPC - HAR

Allelic Composition	Prpf3^{Gt(RRO284)Byg}/Prpf3⁺
Genetic Background	involves: 129P2/OlaHsd * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf3^{Gt(RRO284)Byg} mutation (0 available); any Prpf3 mutation (35 available)

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

vision/eye

vision/eye phenotype ( J:141780 )

N	• despite involvement of PRPF3 mutations in retinitis pigmentosa in humans, retinal function, morphology and ultrastructure are similar to controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	retinitis pigmentosa 18	DOID:0110356	OMIM:601414	J:141780

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Prpf3^tm1.1Eap mutation (0 available); any Prpf3 mutation (35 available)

♀	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

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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