Ppp1r13l^wa3
Spontaneous Allele Detail

Summary

• Symbol: Ppp1r13l^wa3
• 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: Ppp1r13l^wa3 page

Mutation origin

• Strain of Origin: C57BL/6

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: Sequence 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

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: 38 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)