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Ppp1r13lwa3
Spontaneous Allele Detail
Summary
Symbol: Ppp1r13lwa3
Name: protein phosphatase 1, regulatory subunit 13 like; waved 3
MGI ID: MGI:3575541
Gene: Ppp1r13l  Location: Chr7:19093674-19112458 bp, + strand  Genetic Position: Chr7, 9.62 cM
Alliance: Ppp1r13lwa3 page
Mutation
origin
Strain of Origin:  C57BL/6
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsSequence analysis revealed a 14 bp deletion in the genomic DNA. This deletion removes a splice donor site, resulting in a transcript for this allele that is 92 bp longer than that of the wild-type allele due to the retention of intronic sequence between exons 8 and 9. The retained sequence includes the splice donor site of exon 8. The inserted sequence introduces a premature stop codon that results in the loss of a substantial portion of the N-terminal portion of the open reading frame of the encoded protein. Loss of protein product was confirmed by Western blot analysis. (J:96392)
Inheritance:    Not Specified
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 5 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ppp1r13l Mutation:  39 strains or lines available
References
Original:  J:96392 Herron BJ, et al., A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice. Hum Mol Genet. 2005 Mar 1;14(5):667-77
All:  2 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
10/29/2024
MGI 6.24
The Jackson Laboratory