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Pcntm239Asp
Chemically induced Allele Detail
Summary
Symbol: Pcntm239Asp
Name: pericentrin (kendrin); mutation 239, Andrew S Peterson
MGI ID: MGI:3799303
Gene: Pcnt  Location: Chr10:76187097-76278620 bp, - strand  Genetic Position: Chr10, 38.8 cM
Alliance: Pcntm239Asp page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Intragenic deletion
 
Mutation detailsENU mutagenesis induces a two base pair deletion in exon 31. The resulting frame shift disrupts all three isoforms with isoform A containning 46 and isoforms B and S containing 43 novel amino acids before premature truncation. The absence of the 330 KDa and 250 KDa isoforms was confirmed by western blot analysis on E14.5 brain extracts.
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 2 anatomical structure(s)
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 Pcnt Mutation:  159 strains or lines available
References
Original:  J:136795 Zarbalis K, et al., A focused and efficient genetic screening strategy in the mouse: identification of mutations that disrupt cortical development. PLoS Biol. 2004 Aug;2(8):E219
All:  2 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
12/10/2024
MGI 6.24
The Jackson Laboratory