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Prph2Nmf193
Chemically induced Allele Detail
Summary
Symbol: Prph2Nmf193
Name: peripherin 2; neuroscience mutagenesis facility, 193
MGI ID: MGI:3038638
Gene: Prph2  Location: Chr17:47221404-47235859 bp, + strand  Genetic Position: Chr17, 22.91 cM
Alliance: Prph2Nmf193 page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsThis phenotypic mutant was identified in an ENU mutagenesis screen. A T-to-A mutation was identified in the exon 1 splice donor site leading to the inappropriate use of a downstream splice donor site. 25 extra nucleotides were included in the mRNA before splicing to the proper splice acceptor site in exon 2. This resulted in a frameshift and the incorporation of 49 missense amino acids before premature truncation of the protein occurred. In homozygote mice, no full-length or truncated protein was detected in retinal extracts. Heterozygote mice had a significant reduction of full-length protein in their retinas compared to wild-type controls. (J:148636)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Prph2 Mutation:  27 strains or lines available
References
Original:  J:87349 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2004-7;
All:  3 reference(s)

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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last database update
03/19/2024
MGI 6.23
The Jackson Laboratory