Ppp1r13lwa3
Spontaneous Allele Detail
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| 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
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| Alliance: |
Ppp1r13lwa3 page
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| Allele Type: |
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Spontaneous |
| Mutation: |
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Intragenic deletion
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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)
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| Inheritance: |
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Not Specified |
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View phenotypes and curated references for all genotypes (concatenated display).
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| 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
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| Carrying any Ppp1r13l Mutation: |
39 strains or lines available
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| 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) |
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Analysis Tools
