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Pcdh15m5Btlr
Chemically induced Allele Detail
Summary
Symbol: Pcdh15m5Btlr
Name: protocadherin 15; mutation 5, Bruce Beutler
MGI ID: MGI:6114106
Synonyms: tortilla
Gene: Pcdh15  Location: Chr10:72935174-74485569 bp, + strand  Genetic Position: Chr10, 37.43 cM
Alliance: Pcdh15m5Btlr 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 G to T transversion at base pair 74,379,417 (v38) on chromosome 10, or base pair 1,280,076 in the GenBank genomic region NC_000076 within the donor splice site of intron 15 (ENSMUST00000195531.5). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in skipping of the 80-nucleotide exon 15 (out of 35 total exons), resulting in an in-frame deletion of amino acids 640-666 of the protein. (J:255213)
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 Pcdh15 Mutation:  132 strains or lines available
References
Original:  J:255213 Prince L, et al., Mutagenetix entry for tortilla. MGI Direct Data Submission. 2018;
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
04/23/2024
MGI 6.23
The Jackson Laboratory