Pi4kam2Btlr
Chemically induced Allele Detail
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| Symbol: |
Pi4kam2Btlr |
| Name: |
phosphatidylinositol 4-kinase alpha; mutation 2, Bruce Beutler |
| MGI ID: |
MGI:6286120 |
| Synonyms: |
arachnoid |
| Gene: |
Pi4ka Location: Chr16:17098215-17224178 bp, - strand Genetic Position: Chr16, 10.71 cM
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| Alliance: |
Pi4kam2Btlr page
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| Strain of Origin: |
C57BL/6J
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| Project Collection: |
Beutler Mutagenetix
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| Allele Type: |
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Chemically induced (ENU) (Not Specified) |
| Mutation: |
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Single point mutation
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Mutation details: ENU-induced T to C transition at base pair 17,285,281 (v38) on chromosome 16, or base pair 121,034 in the GenBank genomic region NC_000082 within the splice acceptor site of intron 44 (4-base pairs from exon 45 [out of 55 total exons]). The effect of the mutation at the cDNA and protein levels has not been examined, but the mutation is predicted to not affect splicing of the mRNA sequence NM_001001983. If the mutation does affect splicing, the most likely aberrant splicing result with cause skipping of the 71-base pair exon 45. The aberrant splicing would cause a frame-shifted protein product beginning after amino acid 1,691 of the protein, which is normally 2,044 amino acids in length, and termination after the inclusion of seven aberrant amino acids.
(J:272852)
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| Inheritance: |
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Recessive |
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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 Pi4ka Mutation: |
126 strains or lines available
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https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3948
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| Original: |
J:272852 Zhong X, et al., Mutagenetix entry for arachnoid. MGI Direct Data Submission. 2019; |
| All: |
1 reference(s) |
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Analysis Tools
