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Pxdnmhdakta048
Chemically induced Allele Detail
Summary
Symbol: Pxdnmhdakta048
Name: peroxidasin; Martin Hrabe de Angelis kinked tail 048
MGI ID: MGI:5584201
Synonyms: KTA048, Pxdnkta048
Gene: Pxdn  Location: Chr12:29987607-30067657 bp, + strand  Genetic Position: Chr12, 13.0 cM
Alliance: Pxdnmhdakta048 page
Mutation
origin
Strain of Origin:  C3HeB/FeJ
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU mutagenesis induced a T to A point mutation in exon 19 that results in the amino acid substitution of a termination codon for cysteine at position 1271 (C1272X). This mutation results in a truncation that is predicted to affect the C-terminal region of the peroxidase domain. (J:213336)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 1 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 16 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 Pxdn Mutation:  67 strains or lines available
References
Original:  J:213336 Yan X, et al., Peroxidasin is essential for eye development in the mouse. Hum Mol Genet. 2014 Nov 1;23(21):5597-614
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
04/16/2024
MGI 6.23
The Jackson Laboratory