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Pcdh15av-5J
Chemically induced Allele Detail
Summary
Symbol: Pcdh15av-5J
Name: protocadherin 15; Ames Waltzer 5 Jackson
MGI ID: MGI:2183469
Synonyms: neuroscience mutagenesis facility, 19, nmf19, NMF19, Pcdh15av-nmf19, Pcdh15nmf19
Gene: Pcdh15  Location: Chr10:72935174-74485569 bp, + strand  Genetic Position: Chr10, 37.43 cM
Alliance: Pcdh15av-5J page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU) (Modified isoform(s))
Mutation:    Single point mutation
 
Mutation detailsRT-PCR and sequencing demonstrated that the coding sequence of exon 13 was spliced to exon 15 due to an A to G substitution of the splice donor sequence of exon 14, yet immunohistochemistry with an antibody to the cytoplasmic domain encoded by exons 32-34 found normal expression patterns in the mouse retina and cDNA from retina and inner ear identified a novel isoform that excludes exons 3 through 15 and includes 6 extracellular domains, the transmembrane and cytoplasmic domains. (J:97048, J:112247)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 4 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Pcdh15 Mutation:  132 strains or lines available
References
Original:  J:78134 JAX Neuroscience Mutagenesis Facility, Heritable mouse mutants from JAX NMF ENU Mutagenesis Program. MGI Direct Data Submission. 2002;
All:  4 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
04/09/2024
MGI 6.23
The Jackson Laboratory