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Pi4kam2Btlr
Chemically induced Allele Detail
Summary
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
Alliance: Pi4kam2Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-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)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Pi4ka Mutation:  126 strains or lines available
Notes
https://mutagenetix.utsouthwestern.edu/phenotypic/phenotypic_rec.cfm?pk=3948
References
Original:  J:272852 Zhong X, et al., Mutagenetix entry for arachnoid. MGI Direct Data Submission. 2019;
All:  1 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